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Items: 1 to 20 of 17709

1.

rs7535524 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:117075222 (GRCh38)
    1:117617844 (GRCh37)
    Canonical SPDI:
    NC_000001.11:117075221:A:G
    Gene:
    TTF2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.002595/755 (ALFA)
    G=0.001263/1 (PRJEB37584)
    G=0.003745/2 (MGP)
    G=0.00483/1213 (GnomAD_exomes)
    G=0.006085/735 (ExAC)
    G=0.008079/9 (Daghestan)
    G=0.018293/6 (HapMap)
    G=0.019429/2725 (GnomAD)
    G=0.019683/256 (GoESP)
    G=0.02062/5458 (TOPMED)
    G=0.023148/5 (Qatari)
    G=0.023579/118 (1000Genomes)
    G=0.031642/2490 (PAGE_STUDY)
    A=0.5/10 (SGDP_PRJ)
    HGVS:
    NC_000001.11:g.117075222A>G, NC_000001.10:g.117617844A>G, NM_003594.4:c.638A>G, NM_003594.3:c.638A>G, XM_017002552.3:c.638A>G, XM_017002552.2:c.638A>G, XM_017002552.1:c.638A>G, XM_017002550.3:c.638A>G, XM_017002550.2:c.638A>G, XM_017002550.1:c.638A>G, XM_017002551.3:c.638A>G, XM_017002551.2:c.638A>G, XM_017002551.1:c.638A>G, XM_017002555.3:c.638A>G, XM_017002555.2:c.638A>G, XM_017002555.1:c.638A>G, XM_047432135.1:c.638A>G, XM_047432141.1:c.638A>G, XM_047432144.1:c.638A>G, XR_007064424.1:n.659A>G, XM_047432155.1:c.638A>G, XM_047432136.1:c.638A>G, XM_047432139.1:c.638A>G, XR_007064425.1:n.659A>G, XM_047432143.1:c.638A>G, XM_047432147.1:c.638A>G, XR_007064426.1:n.659A>G, XM_047432152.1:c.638A>G, XM_047432157.1:c.638A>G, XM_047432161.1:c.638A>G, XM_047432162.1:c.638A>G, XR_007064427.1:n.659A>G, XR_007064429.1:n.659A>G, NP_003585.3:p.Lys213Arg, XP_016858041.1:p.Lys213Arg, XP_016858039.1:p.Lys213Arg, XP_016858040.1:p.Lys213Arg, XP_016858044.1:p.Lys213Arg, XP_047288091.1:p.Lys213Arg, XP_047288097.1:p.Lys213Arg, XP_047288100.1:p.Lys213Arg, XP_047288111.1:p.Lys213Arg, XP_047288092.1:p.Lys213Arg, XP_047288095.1:p.Lys213Arg, XP_047288099.1:p.Lys213Arg, XP_047288103.1:p.Lys213Arg, XP_047288108.1:p.Lys213Arg, XP_047288113.1:p.Lys213Arg, XP_047288117.1:p.Lys213Arg, XP_047288118.1:p.Lys213Arg

    2.

    rs7549205 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      1:117076678 (GRCh38)
      1:117619300 (GRCh37)
      Canonical SPDI:
      NC_000001.11:117076677:G:A,NC_000001.11:117076677:G:T
      Gene:
      TTF2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000932/42 (ALFA)
      T=0.000546/1 (Korea1K)
      A=0.000889/223 (GnomAD_exomes)
      A=0.00101/121 (ExAC)
      A=0.003067/1 (HapMap)
      A=0.003579/502 (GnomAD)
      A=0.003918/1037 (TOPMED)
      A=0.003921/51 (GoESP)
      A=0.004685/23 (1000Genomes)
      G=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000001.11:g.117076678G>A, NC_000001.11:g.117076678G>T, NC_000001.10:g.117619300G>A, NC_000001.10:g.117619300G>T, NM_003594.4:c.1428G>A, NM_003594.4:c.1428G>T, NM_003594.3:c.1428G>A, NM_003594.3:c.1428G>T, XM_017002552.3:c.1428G>A, XM_017002552.3:c.1428G>T, XM_017002552.2:c.1428G>A, XM_017002552.2:c.1428G>T, XM_017002552.1:c.1428G>A, XM_017002552.1:c.1428G>T, XM_017002550.3:c.1428G>A, XM_017002550.3:c.1428G>T, XM_017002550.2:c.1428G>A, XM_017002550.2:c.1428G>T, XM_017002550.1:c.1428G>A, XM_017002550.1:c.1428G>T, XM_017002551.3:c.1428G>A, XM_017002551.3:c.1428G>T, XM_017002551.2:c.1428G>A, XM_017002551.2:c.1428G>T, XM_017002551.1:c.1428G>A, XM_017002551.1:c.1428G>T, XM_017002555.3:c.1428G>A, XM_017002555.3:c.1428G>T, XM_017002555.2:c.1428G>A, XM_017002555.2:c.1428G>T, XM_017002555.1:c.1428G>A, XM_017002555.1:c.1428G>T, XM_047432135.1:c.1428G>A, XM_047432135.1:c.1428G>T, XM_047432141.1:c.1428G>A, XM_047432141.1:c.1428G>T, XM_047432144.1:c.1428G>A, XM_047432144.1:c.1428G>T, XR_007064424.1:n.1449G>A, XR_007064424.1:n.1449G>T, XM_047432155.1:c.1428G>A, XM_047432155.1:c.1428G>T, XM_047432136.1:c.1428G>A, XM_047432136.1:c.1428G>T, XM_047432139.1:c.1428G>A, XM_047432139.1:c.1428G>T, XR_007064425.1:n.1449G>A, XR_007064425.1:n.1449G>T, XM_047432143.1:c.1428G>A, XM_047432143.1:c.1428G>T, XM_047432147.1:c.1428G>A, XM_047432147.1:c.1428G>T, XR_007064426.1:n.1449G>A, XR_007064426.1:n.1449G>T, XM_047432152.1:c.1428G>A, XM_047432152.1:c.1428G>T, XM_047432157.1:c.1428G>A, XM_047432157.1:c.1428G>T, XM_047432161.1:c.1428G>A, XM_047432161.1:c.1428G>T, XM_047432162.1:c.1428G>A, XM_047432162.1:c.1428G>T, XR_007064427.1:n.1449G>A, XR_007064427.1:n.1449G>T, XR_007064429.1:n.1449G>A, XR_007064429.1:n.1449G>T, NP_003585.3:p.Gln476His, XP_016858041.1:p.Gln476His, XP_016858039.1:p.Gln476His, XP_016858040.1:p.Gln476His, XP_016858044.1:p.Gln476His, XP_047288091.1:p.Gln476His, XP_047288097.1:p.Gln476His, XP_047288100.1:p.Gln476His, XP_047288111.1:p.Gln476His, XP_047288092.1:p.Gln476His, XP_047288095.1:p.Gln476His, XP_047288099.1:p.Gln476His, XP_047288103.1:p.Gln476His, XP_047288108.1:p.Gln476His, XP_047288113.1:p.Gln476His, XP_047288117.1:p.Gln476His, XP_047288118.1:p.Gln476His

      3.

      rs17036832 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        1:117075402 (GRCh38)
        1:117618024 (GRCh37)
        Canonical SPDI:
        NC_000001.11:117075401:G:A,NC_000001.11:117075401:G:C
        Gene:
        TTF2 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.002216/244 (ALFA)
        C=0.00027/1 (TWINSUK)
        C=0.000778/3 (ALSPAC)
        C=0.001873/1 (MGP)
        C=0.020261/2841 (GnomAD)
        C=0.020529/267 (GoESP)
        C=0.025765/129 (1000Genomes)
        C=0.027778/6 (Qatari)
        C=0.031359/2468 (PAGE_STUDY)
        G=0.5/6 (SGDP_PRJ)
        HGVS:
        NC_000001.11:g.117075402G>A, NC_000001.11:g.117075402G>C, NC_000001.10:g.117618024G>A, NC_000001.10:g.117618024G>C, NM_003594.4:c.818G>A, NM_003594.4:c.818G>C, NM_003594.3:c.818G>A, NM_003594.3:c.818G>C, XM_017002552.3:c.818G>A, XM_017002552.3:c.818G>C, XM_017002552.2:c.818G>A, XM_017002552.2:c.818G>C, XM_017002552.1:c.818G>A, XM_017002552.1:c.818G>C, XM_017002550.3:c.818G>A, XM_017002550.3:c.818G>C, XM_017002550.2:c.818G>A, XM_017002550.2:c.818G>C, XM_017002550.1:c.818G>A, XM_017002550.1:c.818G>C, XM_017002551.3:c.818G>A, XM_017002551.3:c.818G>C, XM_017002551.2:c.818G>A, XM_017002551.2:c.818G>C, XM_017002551.1:c.818G>A, XM_017002551.1:c.818G>C, XM_017002555.3:c.818G>A, XM_017002555.3:c.818G>C, XM_017002555.2:c.818G>A, XM_017002555.2:c.818G>C, XM_017002555.1:c.818G>A, XM_017002555.1:c.818G>C, XM_047432135.1:c.818G>A, XM_047432135.1:c.818G>C, XM_047432141.1:c.818G>A, XM_047432141.1:c.818G>C, XM_047432144.1:c.818G>A, XM_047432144.1:c.818G>C, XR_007064424.1:n.839G>A, XR_007064424.1:n.839G>C, XM_047432155.1:c.818G>A, XM_047432155.1:c.818G>C, XM_047432136.1:c.818G>A, XM_047432136.1:c.818G>C, XM_047432139.1:c.818G>A, XM_047432139.1:c.818G>C, XR_007064425.1:n.839G>A, XR_007064425.1:n.839G>C, XM_047432143.1:c.818G>A, XM_047432143.1:c.818G>C, XM_047432147.1:c.818G>A, XM_047432147.1:c.818G>C, XR_007064426.1:n.839G>A, XR_007064426.1:n.839G>C, XM_047432152.1:c.818G>A, XM_047432152.1:c.818G>C, XM_047432157.1:c.818G>A, XM_047432157.1:c.818G>C, XM_047432161.1:c.818G>A, XM_047432161.1:c.818G>C, XM_047432162.1:c.818G>A, XM_047432162.1:c.818G>C, XR_007064427.1:n.839G>A, XR_007064427.1:n.839G>C, XR_007064429.1:n.839G>A, XR_007064429.1:n.839G>C, NP_003585.3:p.Ser273Asn, NP_003585.3:p.Ser273Thr, XP_016858041.1:p.Ser273Asn, XP_016858041.1:p.Ser273Thr, XP_016858039.1:p.Ser273Asn, XP_016858039.1:p.Ser273Thr, XP_016858040.1:p.Ser273Asn, XP_016858040.1:p.Ser273Thr, XP_016858044.1:p.Ser273Asn, XP_016858044.1:p.Ser273Thr, XP_047288091.1:p.Ser273Asn, XP_047288091.1:p.Ser273Thr, XP_047288097.1:p.Ser273Asn, XP_047288097.1:p.Ser273Thr, XP_047288100.1:p.Ser273Asn, XP_047288100.1:p.Ser273Thr, XP_047288111.1:p.Ser273Asn, XP_047288111.1:p.Ser273Thr, XP_047288092.1:p.Ser273Asn, XP_047288092.1:p.Ser273Thr, XP_047288095.1:p.Ser273Asn, XP_047288095.1:p.Ser273Thr, XP_047288099.1:p.Ser273Asn, XP_047288099.1:p.Ser273Thr, XP_047288103.1:p.Ser273Asn, XP_047288103.1:p.Ser273Thr, XP_047288108.1:p.Ser273Asn, XP_047288108.1:p.Ser273Thr, XP_047288113.1:p.Ser273Asn, XP_047288113.1:p.Ser273Thr, XP_047288117.1:p.Ser273Asn, XP_047288117.1:p.Ser273Thr, XP_047288118.1:p.Ser273Asn, XP_047288118.1:p.Ser273Thr

        4.

        rs17036836 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:117075845 (GRCh38)
          1:117618467 (GRCh37)
          Canonical SPDI:
          NC_000001.11:117075844:C:T
          Gene:
          TTF2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.003516/208 (ALFA)
          T=0.00027/1 (TWINSUK)
          T=0.000519/2 (ALSPAC)
          T=0.001873/1 (MGP)
          T=0.00271/651 (GnomAD_exomes)
          T=0.003372/388 (ExAC)
          T=0.007987/5 (Chileans)
          T=0.009488/123 (GoESP)
          T=0.01017/1426 (GnomAD)
          T=0.010775/2852 (TOPMED)
          T=0.012804/64 (1000Genomes)
          T=0.018519/4 (Qatari)
          T=0.042672/46 (HapMap)
          C=0.5/2 (SGDP_PRJ)
          HGVS:
          NC_000001.11:g.117075845C>T, NC_000001.10:g.117618467C>T, NM_003594.4:c.1261C>T, NM_003594.3:c.1261C>T, XM_017002552.3:c.1261C>T, XM_017002552.2:c.1261C>T, XM_017002552.1:c.1261C>T, XM_017002550.3:c.1261C>T, XM_017002550.2:c.1261C>T, XM_017002550.1:c.1261C>T, XM_017002551.3:c.1261C>T, XM_017002551.2:c.1261C>T, XM_017002551.1:c.1261C>T, XM_017002555.3:c.1261C>T, XM_017002555.2:c.1261C>T, XM_017002555.1:c.1261C>T, XM_047432135.1:c.1261C>T, XM_047432141.1:c.1261C>T, XM_047432144.1:c.1261C>T, XR_007064424.1:n.1282C>T, XM_047432155.1:c.1261C>T, XM_047432136.1:c.1261C>T, XM_047432139.1:c.1261C>T, XR_007064425.1:n.1282C>T, XM_047432143.1:c.1261C>T, XM_047432147.1:c.1261C>T, XR_007064426.1:n.1282C>T, XM_047432152.1:c.1261C>T, XM_047432157.1:c.1261C>T, XM_047432161.1:c.1261C>T, XM_047432162.1:c.1261C>T, XR_007064427.1:n.1282C>T, XR_007064429.1:n.1282C>T

          5.

          rs34135400 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:117091885 (GRCh38)
            1:117634507 (GRCh37)
            Canonical SPDI:
            NC_000001.11:117091884:G:A
            Gene:
            TTF2 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000642/128 (ALFA)
            A=0.000035/1 (TOMMO)
            A=0.000342/1 (KOREAN)
            A=0.001047/263 (GnomAD_exomes)
            A=0.001326/161 (ExAC)
            A=0.003944/552 (GnomAD)
            A=0.004314/1142 (TOPMED)
            A=0.004383/57 (GoESP)
            A=0.00615/484 (PAGE_STUDY)
            A=0.006402/32 (1000Genomes)
            G=0.5/3 (SGDP_PRJ)
            HGVS:
            NC_000001.11:g.117091885G>A, NC_000001.10:g.117634507G>A, NM_003594.4:c.2740G>A, NM_003594.3:c.2740G>A, XM_017002552.3:c.2821G>A, XM_017002552.2:c.2821G>A, XM_017002552.1:c.2821G>A, XM_017002550.3:c.2824G>A, XM_017002550.2:c.2824G>A, XM_017002550.1:c.2824G>A, XM_017002551.3:c.2824G>A, XM_017002551.2:c.2824G>A, XM_017002551.1:c.2824G>A, XM_017002555.3:c.2740G>A, XM_017002555.2:c.2740G>A, XM_017002555.1:c.2740G>A, XM_047432135.1:c.2803G>A, XM_047432141.1:c.2761G>A, XM_047432144.1:c.2758G>A, XR_007064424.1:n.2845G>A, XM_047432155.1:c.2737G>A, XM_047432136.1:c.2803G>A, XM_047432139.1:c.2800G>A, XR_007064425.1:n.2782G>A, XM_047432143.1:c.2761G>A, XM_047432147.1:c.2758G>A, XR_007064426.1:n.2761G>A, XM_047432152.1:c.2740G>A, XM_047432157.1:c.2737G>A, XM_047432161.1:c.2824G>A, XM_047432162.1:c.2740G>A, NP_003585.3:p.Val914Ile, XP_016858041.1:p.Val941Ile, XP_016858039.1:p.Val942Ile, XP_016858040.1:p.Val942Ile, XP_016858044.1:p.Val914Ile, XP_047288091.1:p.Val935Ile, XP_047288097.1:p.Val921Ile, XP_047288100.1:p.Val920Ile, XP_047288111.1:p.Val913Ile, XP_047288092.1:p.Val935Ile, XP_047288095.1:p.Val934Ile, XP_047288099.1:p.Val921Ile, XP_047288103.1:p.Val920Ile, XP_047288108.1:p.Val914Ile, XP_047288113.1:p.Val913Ile, XP_047288117.1:p.Val942Ile, XP_047288118.1:p.Val914Ile

            6.

            rs35838803 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:117075065 (GRCh38)
              1:117617687 (GRCh37)
              Canonical SPDI:
              NC_000001.11:117075064:C:G,NC_000001.11:117075064:C:T
              Gene:
              TTF2 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_variant,stop_gained
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.00004/4 (ALFA)
              G=0.000529/140 (TOPMED)
              G=0.000751/91 (ExAC)
              G=0.00098/246 (GnomAD_exomes)
              G=0.001118/88 (PAGE_STUDY)
              G=0.001874/9 (1000Genomes)
              C=0.5/1 (SGDP_PRJ)
              HGVS:
              NC_000001.11:g.117075065C>G, NC_000001.11:g.117075065C>T, NC_000001.10:g.117617687C>G, NC_000001.10:g.117617687C>T, NM_003594.4:c.481C>G, NM_003594.4:c.481C>T, NM_003594.3:c.481C>G, NM_003594.3:c.481C>T, XM_017002552.3:c.481C>G, XM_017002552.3:c.481C>T, XM_017002552.2:c.481C>G, XM_017002552.2:c.481C>T, XM_017002552.1:c.481C>G, XM_017002552.1:c.481C>T, XM_017002550.3:c.481C>G, XM_017002550.3:c.481C>T, XM_017002550.2:c.481C>G, XM_017002550.2:c.481C>T, XM_017002550.1:c.481C>G, XM_017002550.1:c.481C>T, XM_017002551.3:c.481C>G, XM_017002551.3:c.481C>T, XM_017002551.2:c.481C>G, XM_017002551.2:c.481C>T, XM_017002551.1:c.481C>G, XM_017002551.1:c.481C>T, XM_017002555.3:c.481C>G, XM_017002555.3:c.481C>T, XM_017002555.2:c.481C>G, XM_017002555.2:c.481C>T, XM_017002555.1:c.481C>G, XM_017002555.1:c.481C>T, XM_047432135.1:c.481C>G, XM_047432135.1:c.481C>T, XM_047432141.1:c.481C>G, XM_047432141.1:c.481C>T, XM_047432144.1:c.481C>G, XM_047432144.1:c.481C>T, XR_007064424.1:n.502C>G, XR_007064424.1:n.502C>T, XM_047432155.1:c.481C>G, XM_047432155.1:c.481C>T, XM_047432136.1:c.481C>G, XM_047432136.1:c.481C>T, XM_047432139.1:c.481C>G, XM_047432139.1:c.481C>T, XR_007064425.1:n.502C>G, XR_007064425.1:n.502C>T, XM_047432143.1:c.481C>G, XM_047432143.1:c.481C>T, XM_047432147.1:c.481C>G, XM_047432147.1:c.481C>T, XR_007064426.1:n.502C>G, XR_007064426.1:n.502C>T, XM_047432152.1:c.481C>G, XM_047432152.1:c.481C>T, XM_047432157.1:c.481C>G, XM_047432157.1:c.481C>T, XM_047432161.1:c.481C>G, XM_047432161.1:c.481C>T, XM_047432162.1:c.481C>G, XM_047432162.1:c.481C>T, XR_007064427.1:n.502C>G, XR_007064427.1:n.502C>T, XR_007064429.1:n.502C>G, XR_007064429.1:n.502C>T, NP_003585.3:p.Gln161Glu, NP_003585.3:p.Gln161Ter, XP_016858041.1:p.Gln161Glu, XP_016858041.1:p.Gln161Ter, XP_016858039.1:p.Gln161Glu, XP_016858039.1:p.Gln161Ter, XP_016858040.1:p.Gln161Glu, XP_016858040.1:p.Gln161Ter, XP_016858044.1:p.Gln161Glu, XP_016858044.1:p.Gln161Ter, XP_047288091.1:p.Gln161Glu, XP_047288091.1:p.Gln161Ter, XP_047288097.1:p.Gln161Glu, XP_047288097.1:p.Gln161Ter, XP_047288100.1:p.Gln161Glu, XP_047288100.1:p.Gln161Ter, XP_047288111.1:p.Gln161Glu, XP_047288111.1:p.Gln161Ter, XP_047288092.1:p.Gln161Glu, XP_047288092.1:p.Gln161Ter, XP_047288095.1:p.Gln161Glu, XP_047288095.1:p.Gln161Ter, XP_047288099.1:p.Gln161Glu, XP_047288099.1:p.Gln161Ter, XP_047288103.1:p.Gln161Glu, XP_047288103.1:p.Gln161Ter, XP_047288108.1:p.Gln161Glu, XP_047288108.1:p.Gln161Ter, XP_047288113.1:p.Gln161Glu, XP_047288113.1:p.Gln161Ter, XP_047288117.1:p.Gln161Glu, XP_047288117.1:p.Gln161Ter, XP_047288118.1:p.Gln161Glu, XP_047288118.1:p.Gln161Ter

              7.

              rs41306197 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:117092779 (GRCh38)
                1:117635401 (GRCh37)
                Canonical SPDI:
                NC_000001.11:117092778:G:A
                Gene:
                TTF2 (Varview), MIR942 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.010429/2158 (ALFA)
                A=0.000035/1 (TOMMO)
                A=0.003289/1 (FINRISK)
                A=0.0046/362 (PAGE_STUDY)
                A=0.004997/25 (1000Genomes)
                A=0.006012/6 (GoNL)
                A=0.006945/974 (GnomAD)
                A=0.007012/1763 (GnomAD_exomes)
                A=0.00713/8 (Daghestan)
                A=0.007216/876 (ExAC)
                A=0.007326/1939 (TOPMED)
                A=0.007766/101 (GoESP)
                A=0.008303/32 (ALSPAC)
                A=0.00863/32 (TWINSUK)
                A=0.008705/39 (Estonian)
                A=0.009363/5 (MGP)
                G=0.5/1 (Siberian)
                G=0.5/2 (SGDP_PRJ)
                HGVS:
                NC_000001.11:g.117092779G>A, NC_000001.10:g.117635401G>A, NM_003594.4:c.2854G>A, NM_003594.3:c.2854G>A, XM_017002552.3:c.2935G>A, XM_017002552.2:c.2935G>A, XM_017002552.1:c.2935G>A, XM_017002550.3:c.2938G>A, XM_017002550.2:c.2938G>A, XM_017002550.1:c.2938G>A, XM_017002551.3:c.2938G>A, XM_017002551.2:c.2938G>A, XM_017002551.1:c.2938G>A, XM_017002555.3:c.2854G>A, XM_017002555.2:c.2854G>A, XM_017002555.1:c.2854G>A, XM_047432135.1:c.2917G>A, XM_047432141.1:c.2875G>A, XM_047432144.1:c.2872G>A, XR_007064424.1:n.2959G>A, XM_047432155.1:c.2851G>A, XM_047432136.1:c.2917G>A, XM_047432139.1:c.2914G>A, XR_007064425.1:n.2896G>A, XM_047432143.1:c.2875G>A, XM_047432147.1:c.2872G>A, XR_007064426.1:n.2875G>A, XM_047432152.1:c.2854G>A, XM_047432157.1:c.2851G>A, XM_047432161.1:c.2938G>A, XM_047432162.1:c.2854G>A, NP_003585.3:p.Glu952Lys, XP_016858041.1:p.Glu979Lys, XP_016858039.1:p.Glu980Lys, XP_016858040.1:p.Glu980Lys, XP_016858044.1:p.Glu952Lys, XP_047288091.1:p.Glu973Lys, XP_047288097.1:p.Glu959Lys, XP_047288100.1:p.Glu958Lys, XP_047288111.1:p.Glu951Lys, XP_047288092.1:p.Glu973Lys, XP_047288095.1:p.Glu972Lys, XP_047288099.1:p.Glu959Lys, XP_047288103.1:p.Glu958Lys, XP_047288108.1:p.Glu952Lys, XP_047288113.1:p.Glu951Lys, XP_047288117.1:p.Glu980Lys, XP_047288118.1:p.Glu952Lys

                8.

                rs61737095 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:117076733 (GRCh38)
                  1:117619355 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:117076732:C:T
                  Gene:
                  TTF2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000642/131 (ALFA)
                  T=0./0 (TWINSUK)
                  T=0.000223/1 (Estonian)
                  T=0.000685/2 (KOREAN)
                  T=0.000778/3 (ALSPAC)
                  T=0.000885/15 (TOMMO)
                  T=0.001263/1 (PRJEB37584)
                  T=0.001349/339 (GnomAD_exomes)
                  T=0.001452/176 (ExAC)
                  T=0.004398/1164 (TOPMED)
                  T=0.00447/627 (GnomAD)
                  T=0.00469/61 (GoESP)
                  T=0.005618/3 (MGP)
                  T=0.00609/30 (1000Genomes)
                  T=0.00784/617 (PAGE_STUDY)
                  HGVS:
                  NC_000001.11:g.117076733C>T, NC_000001.10:g.117619355C>T, NM_003594.4:c.1483C>T, NM_003594.3:c.1483C>T, XM_017002552.3:c.1483C>T, XM_017002552.2:c.1483C>T, XM_017002552.1:c.1483C>T, XM_017002550.3:c.1483C>T, XM_017002550.2:c.1483C>T, XM_017002550.1:c.1483C>T, XM_017002551.3:c.1483C>T, XM_017002551.2:c.1483C>T, XM_017002551.1:c.1483C>T, XM_017002555.3:c.1483C>T, XM_017002555.2:c.1483C>T, XM_017002555.1:c.1483C>T, XM_047432135.1:c.1483C>T, XM_047432141.1:c.1483C>T, XM_047432144.1:c.1483C>T, XR_007064424.1:n.1504C>T, XM_047432155.1:c.1483C>T, XM_047432136.1:c.1483C>T, XM_047432139.1:c.1483C>T, XR_007064425.1:n.1504C>T, XM_047432143.1:c.1483C>T, XM_047432147.1:c.1483C>T, XR_007064426.1:n.1504C>T, XM_047432152.1:c.1483C>T, XM_047432157.1:c.1483C>T, XM_047432161.1:c.1483C>T, XM_047432162.1:c.1483C>T, XR_007064427.1:n.1504C>T, XR_007064429.1:n.1504C>T, NP_003585.3:p.Leu495Phe, XP_016858041.1:p.Leu495Phe, XP_016858039.1:p.Leu495Phe, XP_016858040.1:p.Leu495Phe, XP_016858044.1:p.Leu495Phe, XP_047288091.1:p.Leu495Phe, XP_047288097.1:p.Leu495Phe, XP_047288100.1:p.Leu495Phe, XP_047288111.1:p.Leu495Phe, XP_047288092.1:p.Leu495Phe, XP_047288095.1:p.Leu495Phe, XP_047288099.1:p.Leu495Phe, XP_047288103.1:p.Leu495Phe, XP_047288108.1:p.Leu495Phe, XP_047288113.1:p.Leu495Phe, XP_047288117.1:p.Leu495Phe, XP_047288118.1:p.Leu495Phe

                  9.

                  rs61737102 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:117092778 (GRCh38)
                    1:117635400 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:117092777:G:A
                    Gene:
                    TTF2 (Varview), MIR942 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.002601/119 (ALFA)
                    A=0.002036/512 (GnomAD_exomes)
                    A=0.002718/330 (ExAC)
                    A=0.00463/1 (Qatari)
                    A=0.007919/103 (GoESP)
                    A=0.008652/1213 (GnomAD)
                    A=0.009301/2462 (TOPMED)
                    A=0.009838/49 (1000Genomes)
                    A=0.013203/1039 (PAGE_STUDY)
                    G=0.5/2 (SGDP_PRJ)
                    HGVS:
                    NC_000001.11:g.117092778G>A, NC_000001.10:g.117635400G>A, NM_003594.4:c.2853G>A, NM_003594.3:c.2853G>A, XM_017002552.3:c.2934G>A, XM_017002552.2:c.2934G>A, XM_017002552.1:c.2934G>A, XM_017002550.3:c.2937G>A, XM_017002550.2:c.2937G>A, XM_017002550.1:c.2937G>A, XM_017002551.3:c.2937G>A, XM_017002551.2:c.2937G>A, XM_017002551.1:c.2937G>A, XM_017002555.3:c.2853G>A, XM_017002555.2:c.2853G>A, XM_017002555.1:c.2853G>A, XM_047432135.1:c.2916G>A, XM_047432141.1:c.2874G>A, XM_047432144.1:c.2871G>A, XR_007064424.1:n.2958G>A, XM_047432155.1:c.2850G>A, XM_047432136.1:c.2916G>A, XM_047432139.1:c.2913G>A, XR_007064425.1:n.2895G>A, XM_047432143.1:c.2874G>A, XM_047432147.1:c.2871G>A, XR_007064426.1:n.2874G>A, XM_047432152.1:c.2853G>A, XM_047432157.1:c.2850G>A, XM_047432161.1:c.2937G>A, XM_047432162.1:c.2853G>A

                    10.

                    rs73006031 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:117074976 (GRCh38)
                      1:117617598 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:117074975:A:G
                      Gene:
                      TTF2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Clinical significance:
                      benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.00021/38 (ALFA)
                      G=0.000466/117 (GnomAD_exomes)
                      G=0.000652/79 (ExAC)
                      G=0.001913/268 (GnomAD)
                      G=0.00215/569 (TOPMED)
                      G=0.002384/31 (GoESP)
                      G=0.00318/250 (PAGE_STUDY)
                      G=0.003279/16 (1000Genomes)
                      A=0.5/1 (SGDP_PRJ)
                      HGVS:
                      NC_000001.11:g.117074976A>G, NC_000001.10:g.117617598A>G, NM_003594.4:c.392A>G, NM_003594.3:c.392A>G, XM_017002552.3:c.392A>G, XM_017002552.2:c.392A>G, XM_017002552.1:c.392A>G, XM_017002550.3:c.392A>G, XM_017002550.2:c.392A>G, XM_017002550.1:c.392A>G, XM_017002551.3:c.392A>G, XM_017002551.2:c.392A>G, XM_017002551.1:c.392A>G, XM_017002555.3:c.392A>G, XM_017002555.2:c.392A>G, XM_017002555.1:c.392A>G, XM_047432135.1:c.392A>G, XM_047432141.1:c.392A>G, XM_047432144.1:c.392A>G, XR_007064424.1:n.413A>G, XM_047432155.1:c.392A>G, XM_047432136.1:c.392A>G, XM_047432139.1:c.392A>G, XR_007064425.1:n.413A>G, XM_047432143.1:c.392A>G, XM_047432147.1:c.392A>G, XR_007064426.1:n.413A>G, XM_047432152.1:c.392A>G, XM_047432157.1:c.392A>G, XM_047432161.1:c.392A>G, XM_047432162.1:c.392A>G, XR_007064427.1:n.413A>G, XR_007064429.1:n.413A>G, NP_003585.3:p.Lys131Arg, XP_016858041.1:p.Lys131Arg, XP_016858039.1:p.Lys131Arg, XP_016858040.1:p.Lys131Arg, XP_016858044.1:p.Lys131Arg, XP_047288091.1:p.Lys131Arg, XP_047288097.1:p.Lys131Arg, XP_047288100.1:p.Lys131Arg, XP_047288111.1:p.Lys131Arg, XP_047288092.1:p.Lys131Arg, XP_047288095.1:p.Lys131Arg, XP_047288099.1:p.Lys131Arg, XP_047288103.1:p.Lys131Arg, XP_047288108.1:p.Lys131Arg, XP_047288113.1:p.Lys131Arg, XP_047288117.1:p.Lys131Arg, XP_047288118.1:p.Lys131Arg

                      11.

                      rs76420409 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:117092885 (GRCh38)
                        1:117635507 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:117092884:T:C
                        Gene:
                        TTF2 (Varview), MIR942 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant
                        Clinical significance:
                        benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.002046/435 (ALFA)
                        C=0.000259/1 (ALSPAC)
                        C=0.000539/2 (TWINSUK)
                        C=0.001667/1 (NorthernSweden)
                        C=0.003138/789 (GnomAD_exomes)
                        C=0.003577/434 (ExAC)
                        C=0.005618/3 (MGP)
                        C=0.011558/1621 (GnomAD)
                        C=0.011991/3174 (TOPMED)
                        C=0.012336/62 (1000Genomes)
                        C=0.013455/175 (GoESP)
                        C=0.017573/1383 (PAGE_STUDY)
                        C=0.032407/7 (Qatari)
                        T=0.5/9 (SGDP_PRJ)
                        HGVS:
                        NC_000001.11:g.117092885T>C, NC_000001.10:g.117635507T>C, NM_003594.4:c.2960T>C, NM_003594.3:c.2960T>C, XM_017002552.3:c.3041T>C, XM_017002552.2:c.3041T>C, XM_017002552.1:c.3041T>C, XM_017002550.3:c.3044T>C, XM_017002550.2:c.3044T>C, XM_017002550.1:c.3044T>C, XM_017002551.3:c.3044T>C, XM_017002551.2:c.3044T>C, XM_017002551.1:c.3044T>C, XM_017002555.3:c.2960T>C, XM_017002555.2:c.2960T>C, XM_017002555.1:c.2960T>C, XM_047432135.1:c.3023T>C, XM_047432141.1:c.2981T>C, XM_047432144.1:c.2978T>C, XR_007064424.1:n.3065T>C, XM_047432155.1:c.2957T>C, XM_047432136.1:c.3023T>C, XM_047432139.1:c.3020T>C, XR_007064425.1:n.3002T>C, XM_047432143.1:c.2981T>C, XM_047432147.1:c.2978T>C, XR_007064426.1:n.2981T>C, XM_047432152.1:c.2960T>C, XM_047432157.1:c.2957T>C, XM_047432161.1:c.3044T>C, XM_047432162.1:c.2960T>C, NP_003585.3:p.Met987Thr, XP_016858041.1:p.Met1014Thr, XP_016858039.1:p.Met1015Thr, XP_016858040.1:p.Met1015Thr, XP_016858044.1:p.Met987Thr, XP_047288091.1:p.Met1008Thr, XP_047288097.1:p.Met994Thr, XP_047288100.1:p.Met993Thr, XP_047288111.1:p.Met986Thr, XP_047288092.1:p.Met1008Thr, XP_047288095.1:p.Met1007Thr, XP_047288099.1:p.Met994Thr, XP_047288103.1:p.Met993Thr, XP_047288108.1:p.Met987Thr, XP_047288113.1:p.Met986Thr, XP_047288117.1:p.Met1015Thr, XP_047288118.1:p.Met987Thr

                        12.

                        rs138286826 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:117060509 (GRCh38)
                          1:117603131 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:117060508:G:A
                          Gene:
                          TTF2 (Varview), CD101-AS1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Clinical significance:
                          benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.001125/151 (ALFA)
                          A=0.002335/587 (GnomAD_exomes)
                          A=0.002973/360 (ExAC)
                          A=0.009057/45 (1000Genomes)
                          A=0.009445/1325 (GnomAD)
                          A=0.009457/123 (GoESP)
                          A=0.009906/2622 (TOPMED)
                          A=0.0146/1149 (PAGE_STUDY)
                          G=0.5/3 (SGDP_PRJ)
                          HGVS:
                          NC_000001.11:g.117060509G>A, NC_000001.10:g.117603131G>A, NM_003594.4:c.83G>A, NM_003594.3:c.83G>A, XM_017002552.3:c.83G>A, XM_017002552.2:c.83G>A, XM_017002552.1:c.83G>A, XM_017002550.3:c.83G>A, XM_017002550.2:c.83G>A, XM_017002550.1:c.83G>A, XM_017002551.3:c.83G>A, XM_017002551.2:c.83G>A, XM_017002551.1:c.83G>A, XM_017002555.3:c.83G>A, XM_017002555.2:c.83G>A, XM_017002555.1:c.83G>A, XM_047432135.1:c.83G>A, XM_047432141.1:c.83G>A, XM_047432144.1:c.83G>A, XR_007064424.1:n.104G>A, XM_047432155.1:c.83G>A, XM_047432136.1:c.83G>A, XM_047432139.1:c.83G>A, XR_007064425.1:n.104G>A, XM_047432143.1:c.83G>A, XM_047432147.1:c.83G>A, XR_007064426.1:n.104G>A, XM_047432152.1:c.83G>A, XM_047432157.1:c.83G>A, XM_047432161.1:c.83G>A, XM_047432162.1:c.83G>A, XR_007064427.1:n.104G>A, XR_007064429.1:n.104G>A, NP_003585.3:p.Ser28Asn, XP_016858041.1:p.Ser28Asn, XP_016858039.1:p.Ser28Asn, XP_016858040.1:p.Ser28Asn, XP_016858044.1:p.Ser28Asn, XP_047288091.1:p.Ser28Asn, XP_047288097.1:p.Ser28Asn, XP_047288100.1:p.Ser28Asn, XP_047288111.1:p.Ser28Asn, XP_047288092.1:p.Ser28Asn, XP_047288095.1:p.Ser28Asn, XP_047288099.1:p.Ser28Asn, XP_047288103.1:p.Ser28Asn, XP_047288108.1:p.Ser28Asn, XP_047288113.1:p.Ser28Asn, XP_047288117.1:p.Ser28Asn, XP_047288118.1:p.Ser28Asn

                          13.

                          rs139705346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:117076740 (GRCh38)
                            1:117619362 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:117076739:G:A
                            Gene:
                            TTF2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Clinical significance:
                            benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.005404/1101 (ALFA)
                            A=0.001116/5 (Estonian)
                            A=0.001249/6 (1000Genomes)
                            A=0.001667/1 (NorthernSweden)
                            A=0.00263/207 (PAGE_STUDY)
                            A=0.003006/3 (GoNL)
                            A=0.003289/1 (FINRISK)
                            A=0.003745/2 (MGP)
                            A=0.004008/1061 (TOPMED)
                            A=0.004384/1102 (GnomAD_exomes)
                            A=0.004476/627 (GnomAD)
                            A=0.004487/544 (ExAC)
                            A=0.00463/1 (Qatari)
                            A=0.005151/67 (GoESP)
                            A=0.006472/24 (TWINSUK)
                            A=0.006746/26 (ALSPAC)
                            G=0.5/4 (SGDP_PRJ)
                            HGVS:
                            NC_000001.11:g.117076740G>A, NC_000001.10:g.117619362G>A, NM_003594.4:c.1490G>A, NM_003594.3:c.1490G>A, XM_017002552.3:c.1490G>A, XM_017002552.2:c.1490G>A, XM_017002552.1:c.1490G>A, XM_017002550.3:c.1490G>A, XM_017002550.2:c.1490G>A, XM_017002550.1:c.1490G>A, XM_017002551.3:c.1490G>A, XM_017002551.2:c.1490G>A, XM_017002551.1:c.1490G>A, XM_017002555.3:c.1490G>A, XM_017002555.2:c.1490G>A, XM_017002555.1:c.1490G>A, XM_047432135.1:c.1490G>A, XM_047432141.1:c.1490G>A, XM_047432144.1:c.1490G>A, XR_007064424.1:n.1511G>A, XM_047432155.1:c.1490G>A, XM_047432136.1:c.1490G>A, XM_047432139.1:c.1490G>A, XR_007064425.1:n.1511G>A, XM_047432143.1:c.1490G>A, XM_047432147.1:c.1490G>A, XR_007064426.1:n.1511G>A, XM_047432152.1:c.1490G>A, XM_047432157.1:c.1490G>A, XM_047432161.1:c.1490G>A, XM_047432162.1:c.1490G>A, XR_007064427.1:n.1511G>A, XR_007064429.1:n.1511G>A, NP_003585.3:p.Arg497His, XP_016858041.1:p.Arg497His, XP_016858039.1:p.Arg497His, XP_016858040.1:p.Arg497His, XP_016858044.1:p.Arg497His, XP_047288091.1:p.Arg497His, XP_047288097.1:p.Arg497His, XP_047288100.1:p.Arg497His, XP_047288111.1:p.Arg497His, XP_047288092.1:p.Arg497His, XP_047288095.1:p.Arg497His, XP_047288099.1:p.Arg497His, XP_047288103.1:p.Arg497His, XP_047288108.1:p.Arg497His, XP_047288113.1:p.Arg497His, XP_047288117.1:p.Arg497His, XP_047288118.1:p.Arg497His

                            14.

                            rs140571064 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              1:117101416 (GRCh38)
                              1:117644038 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:117101415:A:T
                              Gene:
                              TTF2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000726/17 (ALFA)
                              T=0.000425/103 (GnomAD_exomes)
                              T=0.000518/62 (ExAC)
                              T=0.001562/8 (1000Genomes)
                              T=0.001795/475 (TOPMED)
                              T=0.001818/255 (GnomAD)
                              T=0.00223/29 (GoESP)
                              T=0.003113/245 (PAGE_STUDY)
                              HGVS:
                              NC_000001.11:g.117101416A>T, NC_000001.10:g.117644038A>T, NM_003594.4:c.3381A>T, NM_003594.3:c.3381A>T, XM_017002552.3:c.3462A>T, XM_017002552.2:c.3462A>T, XM_017002552.1:c.3462A>T, XM_017002550.3:c.3465A>T, XM_017002550.2:c.3465A>T, XM_017002550.1:c.3465A>T, XM_017002551.3:c.3465A>T, XM_017002551.2:c.3465A>T, XM_017002551.1:c.3465A>T, XM_017002555.3:c.3381A>T, XM_017002555.2:c.3381A>T, XM_017002555.1:c.3381A>T, XM_047432135.1:c.3444A>T, XM_047432141.1:c.3402A>T, XM_047432144.1:c.3399A>T, XM_047432155.1:c.3378A>T, XM_047432136.1:c.3444A>T, XM_047432139.1:c.3441A>T, XM_047432143.1:c.3402A>T, XM_047432147.1:c.3399A>T, XM_047432152.1:c.3381A>T, XM_047432157.1:c.3378A>T, NP_003585.3:p.Leu1127Phe, XP_016858041.1:p.Leu1154Phe, XP_016858039.1:p.Leu1155Phe, XP_016858040.1:p.Leu1155Phe, XP_016858044.1:p.Leu1127Phe, XP_047288091.1:p.Leu1148Phe, XP_047288097.1:p.Leu1134Phe, XP_047288100.1:p.Leu1133Phe, XP_047288111.1:p.Leu1126Phe, XP_047288092.1:p.Leu1148Phe, XP_047288095.1:p.Leu1147Phe, XP_047288099.1:p.Leu1134Phe, XP_047288103.1:p.Leu1133Phe, XP_047288108.1:p.Leu1127Phe, XP_047288113.1:p.Leu1126Phe

                              15.

                              rs142512730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                1:117075613 (GRCh38)
                                1:117618235 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:117075612:G:A,NC_000001.11:117075612:G:C
                                Gene:
                                TTF2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000119/12 (ALFA)
                                C=0.000312/2 (1000Genomes)
                                C=0.00087/122 (GnomAD)
                                C=0.000923/12 (GoESP)
                                C=0.000997/264 (TOPMED)
                                C=0.001334/105 (PAGE_STUDY)
                                HGVS:
                                NC_000001.11:g.117075613G>A, NC_000001.11:g.117075613G>C, NC_000001.10:g.117618235G>A, NC_000001.10:g.117618235G>C, NM_003594.4:c.1029G>A, NM_003594.4:c.1029G>C, NM_003594.3:c.1029G>A, NM_003594.3:c.1029G>C, XM_017002552.3:c.1029G>A, XM_017002552.3:c.1029G>C, XM_017002552.2:c.1029G>A, XM_017002552.2:c.1029G>C, XM_017002552.1:c.1029G>A, XM_017002552.1:c.1029G>C, XM_017002550.3:c.1029G>A, XM_017002550.3:c.1029G>C, XM_017002550.2:c.1029G>A, XM_017002550.2:c.1029G>C, XM_017002550.1:c.1029G>A, XM_017002550.1:c.1029G>C, XM_017002551.3:c.1029G>A, XM_017002551.3:c.1029G>C, XM_017002551.2:c.1029G>A, XM_017002551.2:c.1029G>C, XM_017002551.1:c.1029G>A, XM_017002551.1:c.1029G>C, XM_017002555.3:c.1029G>A, XM_017002555.3:c.1029G>C, XM_017002555.2:c.1029G>A, XM_017002555.2:c.1029G>C, XM_017002555.1:c.1029G>A, XM_017002555.1:c.1029G>C, XM_047432135.1:c.1029G>A, XM_047432135.1:c.1029G>C, XM_047432141.1:c.1029G>A, XM_047432141.1:c.1029G>C, XM_047432144.1:c.1029G>A, XM_047432144.1:c.1029G>C, XR_007064424.1:n.1050G>A, XR_007064424.1:n.1050G>C, XM_047432155.1:c.1029G>A, XM_047432155.1:c.1029G>C, XM_047432136.1:c.1029G>A, XM_047432136.1:c.1029G>C, XM_047432139.1:c.1029G>A, XM_047432139.1:c.1029G>C, XR_007064425.1:n.1050G>A, XR_007064425.1:n.1050G>C, XM_047432143.1:c.1029G>A, XM_047432143.1:c.1029G>C, XM_047432147.1:c.1029G>A, XM_047432147.1:c.1029G>C, XR_007064426.1:n.1050G>A, XR_007064426.1:n.1050G>C, XM_047432152.1:c.1029G>A, XM_047432152.1:c.1029G>C, XM_047432157.1:c.1029G>A, XM_047432157.1:c.1029G>C, XM_047432161.1:c.1029G>A, XM_047432161.1:c.1029G>C, XM_047432162.1:c.1029G>A, XM_047432162.1:c.1029G>C, XR_007064427.1:n.1050G>A, XR_007064427.1:n.1050G>C, XR_007064429.1:n.1050G>A, XR_007064429.1:n.1050G>C, NP_003585.3:p.Glu343Asp, XP_016858041.1:p.Glu343Asp, XP_016858039.1:p.Glu343Asp, XP_016858040.1:p.Glu343Asp, XP_016858044.1:p.Glu343Asp, XP_047288091.1:p.Glu343Asp, XP_047288097.1:p.Glu343Asp, XP_047288100.1:p.Glu343Asp, XP_047288111.1:p.Glu343Asp, XP_047288092.1:p.Glu343Asp, XP_047288095.1:p.Glu343Asp, XP_047288099.1:p.Glu343Asp, XP_047288103.1:p.Glu343Asp, XP_047288108.1:p.Glu343Asp, XP_047288113.1:p.Glu343Asp, XP_047288117.1:p.Glu343Asp, XP_047288118.1:p.Glu343Asp

                                16.

                                rs143131893 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:117092882 (GRCh38)
                                  1:117635504 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:117092881:G:A
                                  Gene:
                                  TTF2 (Varview), MIR942 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000913/119 (ALFA)
                                  A=0.000259/1 (ALSPAC)
                                  A=0.00027/1 (TWINSUK)
                                  A=0.000308/4 (GoESP)
                                  A=0.000446/2 (Estonian)
                                  A=0.000625/3 (1000Genomes)
                                  A=0.000626/76 (ExAC)
                                  A=0.000815/205 (GnomAD_exomes)
                                  A=0.000891/125 (GnomAD)
                                  A=0.000926/245 (TOPMED)
                                  A=0.000962/75 (PAGE_STUDY)
                                  A=0.001002/1 (GoNL)
                                  HGVS:
                                  NC_000001.11:g.117092882G>A, NC_000001.10:g.117635504G>A, NM_003594.4:c.2957G>A, NM_003594.3:c.2957G>A, XM_017002552.3:c.3038G>A, XM_017002552.2:c.3038G>A, XM_017002552.1:c.3038G>A, XM_017002550.3:c.3041G>A, XM_017002550.2:c.3041G>A, XM_017002550.1:c.3041G>A, XM_017002551.3:c.3041G>A, XM_017002551.2:c.3041G>A, XM_017002551.1:c.3041G>A, XM_017002555.3:c.2957G>A, XM_017002555.2:c.2957G>A, XM_017002555.1:c.2957G>A, XM_047432135.1:c.3020G>A, XM_047432141.1:c.2978G>A, XM_047432144.1:c.2975G>A, XR_007064424.1:n.3062G>A, XM_047432155.1:c.2954G>A, XM_047432136.1:c.3020G>A, XM_047432139.1:c.3017G>A, XR_007064425.1:n.2999G>A, XM_047432143.1:c.2978G>A, XM_047432147.1:c.2975G>A, XR_007064426.1:n.2978G>A, XM_047432152.1:c.2957G>A, XM_047432157.1:c.2954G>A, XM_047432161.1:c.3041G>A, XM_047432162.1:c.2957G>A, NP_003585.3:p.Gly986Asp, XP_016858041.1:p.Gly1013Asp, XP_016858039.1:p.Gly1014Asp, XP_016858040.1:p.Gly1014Asp, XP_016858044.1:p.Gly986Asp, XP_047288091.1:p.Gly1007Asp, XP_047288097.1:p.Gly993Asp, XP_047288100.1:p.Gly992Asp, XP_047288111.1:p.Gly985Asp, XP_047288092.1:p.Gly1007Asp, XP_047288095.1:p.Gly1006Asp, XP_047288099.1:p.Gly993Asp, XP_047288103.1:p.Gly992Asp, XP_047288108.1:p.Gly986Asp, XP_047288113.1:p.Gly985Asp, XP_047288117.1:p.Gly1014Asp, XP_047288118.1:p.Gly986Asp

                                  17.

                                  rs150340120 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:117091878 (GRCh38)
                                    1:117634500 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:117091877:C:T
                                    Gene:
                                    TTF2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Clinical significance:
                                    benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000873/39 (ALFA)
                                    T=0.000967/243 (GnomAD_exomes)
                                    T=0.001318/160 (ExAC)
                                    T=0.003904/20 (1000Genomes)
                                    T=0.004075/53 (GoESP)
                                    T=0.004248/595 (GnomAD)
                                    T=0.004583/1213 (TOPMED)
                                    T=0.00463/1 (Qatari)
                                    C=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    NC_000001.11:g.117091878C>T, NC_000001.10:g.117634500C>T, NM_003594.4:c.2733C>T, NM_003594.3:c.2733C>T, XM_017002552.3:c.2814C>T, XM_017002552.2:c.2814C>T, XM_017002552.1:c.2814C>T, XM_017002550.3:c.2817C>T, XM_017002550.2:c.2817C>T, XM_017002550.1:c.2817C>T, XM_017002551.3:c.2817C>T, XM_017002551.2:c.2817C>T, XM_017002551.1:c.2817C>T, XM_017002555.3:c.2733C>T, XM_017002555.2:c.2733C>T, XM_017002555.1:c.2733C>T, XM_047432135.1:c.2796C>T, XM_047432141.1:c.2754C>T, XM_047432144.1:c.2751C>T, XR_007064424.1:n.2838C>T, XM_047432155.1:c.2730C>T, XM_047432136.1:c.2796C>T, XM_047432139.1:c.2793C>T, XR_007064425.1:n.2775C>T, XM_047432143.1:c.2754C>T, XM_047432147.1:c.2751C>T, XR_007064426.1:n.2754C>T, XM_047432152.1:c.2733C>T, XM_047432157.1:c.2730C>T, XM_047432161.1:c.2817C>T, XM_047432162.1:c.2733C>T

                                    18.

                                    rs52790186 has merged into rs7535524 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:117075222 (GRCh38)
                                      1:117617844 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:117075221:A:G
                                      Gene:
                                      TTF2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Clinical significance:
                                      benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.002595/755 (ALFA)
                                      G=0.001263/1 (PRJEB37584)
                                      G=0.003745/2 (MGP)
                                      G=0.00483/1213 (GnomAD_exomes)
                                      G=0.006085/735 (ExAC)
                                      G=0.008079/9 (Daghestan)
                                      G=0.018293/6 (HapMap)
                                      G=0.019429/2725 (GnomAD)
                                      G=0.019683/256 (GoESP)
                                      G=0.02062/5458 (TOPMED)
                                      G=0.023148/5 (Qatari)
                                      G=0.023579/118 (1000Genomes)
                                      G=0.031642/2490 (PAGE_STUDY)
                                      A=0.5/10 (SGDP_PRJ)
                                      HGVS:
                                      NC_000001.11:g.117075222A>G, NC_000001.10:g.117617844A>G, NM_003594.4:c.638A>G, NM_003594.3:c.638A>G, XM_017002552.3:c.638A>G, XM_017002552.2:c.638A>G, XM_017002552.1:c.638A>G, XM_017002550.3:c.638A>G, XM_017002550.2:c.638A>G, XM_017002550.1:c.638A>G, XM_017002551.3:c.638A>G, XM_017002551.2:c.638A>G, XM_017002551.1:c.638A>G, XM_017002555.3:c.638A>G, XM_017002555.2:c.638A>G, XM_017002555.1:c.638A>G, XM_047432135.1:c.638A>G, XM_047432141.1:c.638A>G, XM_047432144.1:c.638A>G, XR_007064424.1:n.659A>G, XM_047432155.1:c.638A>G, XM_047432136.1:c.638A>G, XM_047432139.1:c.638A>G, XR_007064425.1:n.659A>G, XM_047432143.1:c.638A>G, XM_047432147.1:c.638A>G, XR_007064426.1:n.659A>G, XM_047432152.1:c.638A>G, XM_047432157.1:c.638A>G, XM_047432161.1:c.638A>G, XM_047432162.1:c.638A>G, XR_007064427.1:n.659A>G, XR_007064429.1:n.659A>G, NP_003585.3:p.Lys213Arg, XP_016858041.1:p.Lys213Arg, XP_016858039.1:p.Lys213Arg, XP_016858040.1:p.Lys213Arg, XP_016858044.1:p.Lys213Arg, XP_047288091.1:p.Lys213Arg, XP_047288097.1:p.Lys213Arg, XP_047288100.1:p.Lys213Arg, XP_047288111.1:p.Lys213Arg, XP_047288092.1:p.Lys213Arg, XP_047288095.1:p.Lys213Arg, XP_047288099.1:p.Lys213Arg, XP_047288103.1:p.Lys213Arg, XP_047288108.1:p.Lys213Arg, XP_047288113.1:p.Lys213Arg, XP_047288117.1:p.Lys213Arg, XP_047288118.1:p.Lys213Arg

                                      19.

                                      rs52826473 has merged into rs17036832 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        1:117075402 (GRCh38)
                                        1:117618024 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:117075401:G:A,NC_000001.11:117075401:G:C
                                        Gene:
                                        TTF2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Clinical significance:
                                        benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.002216/244 (ALFA)
                                        C=0.00027/1 (TWINSUK)
                                        C=0.000778/3 (ALSPAC)
                                        C=0.001873/1 (MGP)
                                        C=0.020261/2841 (GnomAD)
                                        C=0.020529/267 (GoESP)
                                        C=0.025765/129 (1000Genomes)
                                        C=0.027778/6 (Qatari)
                                        C=0.031359/2468 (PAGE_STUDY)
                                        G=0.5/6 (SGDP_PRJ)
                                        HGVS:
                                        NC_000001.11:g.117075402G>A, NC_000001.11:g.117075402G>C, NC_000001.10:g.117618024G>A, NC_000001.10:g.117618024G>C, NM_003594.4:c.818G>A, NM_003594.4:c.818G>C, NM_003594.3:c.818G>A, NM_003594.3:c.818G>C, XM_017002552.3:c.818G>A, XM_017002552.3:c.818G>C, XM_017002552.2:c.818G>A, XM_017002552.2:c.818G>C, XM_017002552.1:c.818G>A, XM_017002552.1:c.818G>C, XM_017002550.3:c.818G>A, XM_017002550.3:c.818G>C, XM_017002550.2:c.818G>A, XM_017002550.2:c.818G>C, XM_017002550.1:c.818G>A, XM_017002550.1:c.818G>C, XM_017002551.3:c.818G>A, XM_017002551.3:c.818G>C, XM_017002551.2:c.818G>A, XM_017002551.2:c.818G>C, XM_017002551.1:c.818G>A, XM_017002551.1:c.818G>C, XM_017002555.3:c.818G>A, XM_017002555.3:c.818G>C, XM_017002555.2:c.818G>A, XM_017002555.2:c.818G>C, XM_017002555.1:c.818G>A, XM_017002555.1:c.818G>C, XM_047432135.1:c.818G>A, XM_047432135.1:c.818G>C, XM_047432141.1:c.818G>A, XM_047432141.1:c.818G>C, XM_047432144.1:c.818G>A, XM_047432144.1:c.818G>C, XR_007064424.1:n.839G>A, XR_007064424.1:n.839G>C, XM_047432155.1:c.818G>A, XM_047432155.1:c.818G>C, XM_047432136.1:c.818G>A, XM_047432136.1:c.818G>C, XM_047432139.1:c.818G>A, XM_047432139.1:c.818G>C, XR_007064425.1:n.839G>A, XR_007064425.1:n.839G>C, XM_047432143.1:c.818G>A, XM_047432143.1:c.818G>C, XM_047432147.1:c.818G>A, XM_047432147.1:c.818G>C, XR_007064426.1:n.839G>A, XR_007064426.1:n.839G>C, XM_047432152.1:c.818G>A, XM_047432152.1:c.818G>C, XM_047432157.1:c.818G>A, XM_047432157.1:c.818G>C, XM_047432161.1:c.818G>A, XM_047432161.1:c.818G>C, XM_047432162.1:c.818G>A, XM_047432162.1:c.818G>C, XR_007064427.1:n.839G>A, XR_007064427.1:n.839G>C, XR_007064429.1:n.839G>A, XR_007064429.1:n.839G>C, NP_003585.3:p.Ser273Asn, NP_003585.3:p.Ser273Thr, XP_016858041.1:p.Ser273Asn, XP_016858041.1:p.Ser273Thr, XP_016858039.1:p.Ser273Asn, XP_016858039.1:p.Ser273Thr, XP_016858040.1:p.Ser273Asn, XP_016858040.1:p.Ser273Thr, XP_016858044.1:p.Ser273Asn, XP_016858044.1:p.Ser273Thr, XP_047288091.1:p.Ser273Asn, XP_047288091.1:p.Ser273Thr, XP_047288097.1:p.Ser273Asn, XP_047288097.1:p.Ser273Thr, XP_047288100.1:p.Ser273Asn, XP_047288100.1:p.Ser273Thr, XP_047288111.1:p.Ser273Asn, XP_047288111.1:p.Ser273Thr, XP_047288092.1:p.Ser273Asn, XP_047288092.1:p.Ser273Thr, XP_047288095.1:p.Ser273Asn, XP_047288095.1:p.Ser273Thr, XP_047288099.1:p.Ser273Asn, XP_047288099.1:p.Ser273Thr, XP_047288103.1:p.Ser273Asn, XP_047288103.1:p.Ser273Thr, XP_047288108.1:p.Ser273Asn, XP_047288108.1:p.Ser273Thr, XP_047288113.1:p.Ser273Asn, XP_047288113.1:p.Ser273Thr, XP_047288117.1:p.Ser273Asn, XP_047288117.1:p.Ser273Thr, XP_047288118.1:p.Ser273Asn, XP_047288118.1:p.Ser273Thr

                                        20.

                                        rs56551162 has merged into rs17036836 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:117075845 (GRCh38)
                                          1:117618467 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:117075844:C:T
                                          Gene:
                                          TTF2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Clinical significance:
                                          benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.003516/208 (ALFA)
                                          T=0.00027/1 (TWINSUK)
                                          T=0.000519/2 (ALSPAC)
                                          T=0.001873/1 (MGP)
                                          T=0.00271/651 (GnomAD_exomes)
                                          T=0.003372/388 (ExAC)
                                          T=0.007987/5 (Chileans)
                                          T=0.009488/123 (GoESP)
                                          T=0.01017/1426 (GnomAD)
                                          T=0.010775/2852 (TOPMED)
                                          T=0.012804/64 (1000Genomes)
                                          T=0.018519/4 (Qatari)
                                          T=0.042672/46 (HapMap)
                                          C=0.5/2 (SGDP_PRJ)
                                          HGVS:
                                          NC_000001.11:g.117075845C>T, NC_000001.10:g.117618467C>T, NM_003594.4:c.1261C>T, NM_003594.3:c.1261C>T, XM_017002552.3:c.1261C>T, XM_017002552.2:c.1261C>T, XM_017002552.1:c.1261C>T, XM_017002550.3:c.1261C>T, XM_017002550.2:c.1261C>T, XM_017002550.1:c.1261C>T, XM_017002551.3:c.1261C>T, XM_017002551.2:c.1261C>T, XM_017002551.1:c.1261C>T, XM_017002555.3:c.1261C>T, XM_017002555.2:c.1261C>T, XM_017002555.1:c.1261C>T, XM_047432135.1:c.1261C>T, XM_047432141.1:c.1261C>T, XM_047432144.1:c.1261C>T, XR_007064424.1:n.1282C>T, XM_047432155.1:c.1261C>T, XM_047432136.1:c.1261C>T, XM_047432139.1:c.1261C>T, XR_007064425.1:n.1282C>T, XM_047432143.1:c.1261C>T, XM_047432147.1:c.1261C>T, XR_007064426.1:n.1282C>T, XM_047432152.1:c.1261C>T, XM_047432157.1:c.1261C>T, XM_047432161.1:c.1261C>T, XM_047432162.1:c.1261C>T, XR_007064427.1:n.1282C>T, XR_007064429.1:n.1282C>T

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