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1.

rs1491466637 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    17:3494037 (GRCh38)
    17:3397331 (GRCh37)
    Canonical SPDI:
    NC_000017.11:3494036:AT:
    Gene:
    ASPA (Varview), SPATA22 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491419515 has merged into rs5818896 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,T,TT,TTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
      Chromosome:
      17:3494050 (GRCh38)
      17:3397344 (GRCh37)
      Canonical SPDI:
      NC_000017.11:3494037:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:3494037:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:3494037:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:3494037:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:3494037:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:3494037:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      ASPA (Varview), SPATA22 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTTT=0./0 (ALFA)
      T=0./0 (ALSPAC)
      T=0./0 (TWINSUK)
      T=0.1631/817 (1000Genomes)
      HGVS:
      3.

      rs1491321815 has merged into rs746229421 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        17:3493570 (GRCh38)
        17:3396864 (GRCh37)
        Canonical SPDI:
        NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3493560:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        ASPA (Varview), SPATA22 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.3493570_3493583del, NC_000017.11:g.3493571_3493583del, NC_000017.11:g.3493572_3493583del, NC_000017.11:g.3493573_3493583del, NC_000017.11:g.3493574_3493583del, NC_000017.11:g.3493575_3493583del, NC_000017.11:g.3493576_3493583del, NC_000017.11:g.3493577_3493583del, NC_000017.11:g.3493578_3493583del, NC_000017.11:g.3493579_3493583del, NC_000017.11:g.3493580_3493583del, NC_000017.11:g.3493581_3493583del, NC_000017.11:g.3493582_3493583del, NC_000017.11:g.3493583del, NC_000017.11:g.3493583dup, NC_000017.11:g.3493582_3493583dup, NC_000017.11:g.3493581_3493583dup, NC_000017.11:g.3493580_3493583dup, NC_000017.11:g.3493579_3493583dup, NC_000017.11:g.3493578_3493583dup, NC_000017.11:g.3493577_3493583dup, NC_000017.11:g.3493576_3493583dup, NC_000017.11:g.3493571_3493583dup, NC_000017.11:g.3493570_3493583dup, NC_000017.10:g.3396864_3396877del, NC_000017.10:g.3396865_3396877del, NC_000017.10:g.3396866_3396877del, NC_000017.10:g.3396867_3396877del, NC_000017.10:g.3396868_3396877del, NC_000017.10:g.3396869_3396877del, NC_000017.10:g.3396870_3396877del, NC_000017.10:g.3396871_3396877del, NC_000017.10:g.3396872_3396877del, NC_000017.10:g.3396873_3396877del, NC_000017.10:g.3396874_3396877del, NC_000017.10:g.3396875_3396877del, NC_000017.10:g.3396876_3396877del, NC_000017.10:g.3396877del, NC_000017.10:g.3396877dup, NC_000017.10:g.3396876_3396877dup, NC_000017.10:g.3396875_3396877dup, NC_000017.10:g.3396874_3396877dup, NC_000017.10:g.3396873_3396877dup, NC_000017.10:g.3396872_3396877dup, NC_000017.10:g.3396871_3396877dup, NC_000017.10:g.3396870_3396877dup, NC_000017.10:g.3396865_3396877dup, NC_000017.10:g.3396864_3396877dup, NG_008399.2:g.24925_24938del, NG_008399.2:g.24926_24938del, NG_008399.2:g.24927_24938del, NG_008399.2:g.24928_24938del, NG_008399.2:g.24929_24938del, NG_008399.2:g.24930_24938del, NG_008399.2:g.24931_24938del, NG_008399.2:g.24932_24938del, NG_008399.2:g.24933_24938del, NG_008399.2:g.24934_24938del, NG_008399.2:g.24935_24938del, NG_008399.2:g.24936_24938del, NG_008399.2:g.24937_24938del, NG_008399.2:g.24938del, NG_008399.2:g.24938dup, NG_008399.2:g.24937_24938dup, NG_008399.2:g.24936_24938dup, NG_008399.2:g.24935_24938dup, NG_008399.2:g.24934_24938dup, NG_008399.2:g.24933_24938dup, NG_008399.2:g.24932_24938dup, NG_008399.2:g.24931_24938dup, NG_008399.2:g.24926_24938dup, NG_008399.2:g.24925_24938dup
        4.

        rs1491078925 has merged into rs35886989 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
          Chromosome:
          17:3501967 (GRCh38)
          17:3405261 (GRCh37)
          Canonical SPDI:
          NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:3501952:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ASPA (Varview), SPATA22 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          A=0./0 (GENOME_DK)
          A=0.025/125 (1000Genomes)
          HGVS:
          NC_000017.11:g.3501967_3501974del, NC_000017.11:g.3501969_3501974del, NC_000017.11:g.3501970_3501974del, NC_000017.11:g.3501972_3501974del, NC_000017.11:g.3501973_3501974del, NC_000017.11:g.3501974del, NC_000017.11:g.3501974dup, NC_000017.11:g.3501973_3501974dup, NC_000017.10:g.3405261_3405268del, NC_000017.10:g.3405263_3405268del, NC_000017.10:g.3405264_3405268del, NC_000017.10:g.3405266_3405268del, NC_000017.10:g.3405267_3405268del, NC_000017.10:g.3405268del, NC_000017.10:g.3405268dup, NC_000017.10:g.3405267_3405268dup, NG_008399.2:g.33322_33329del, NG_008399.2:g.33324_33329del, NG_008399.2:g.33325_33329del, NG_008399.2:g.33327_33329del, NG_008399.2:g.33328_33329del, NG_008399.2:g.33329del, NG_008399.2:g.33329dup, NG_008399.2:g.33328_33329dup, NM_000049.4:c.*2879_*2886del, NM_000049.4:c.*2881_*2886del, NM_000049.4:c.*2882_*2886del, NM_000049.4:c.*2884_*2886del, NM_000049.4:c.*2885_*2886del, NM_000049.4:c.*2886del, NM_000049.4:c.*2886dup, NM_000049.4:c.*2885_*2886dup, NM_000049.3:c.*2879_*2886del, NM_000049.3:c.*2881_*2886del, NM_000049.3:c.*2882_*2886del, NM_000049.3:c.*2884_*2886del, NM_000049.3:c.*2885_*2886del, NM_000049.3:c.*2886del, NM_000049.3:c.*2886dup, NM_000049.3:c.*2885_*2886dup, XM_017024661.1:c.*2879_*2886del, XM_017024661.1:c.*2881_*2886del, XM_017024661.1:c.*2882_*2886del, XM_017024661.1:c.*2884_*2886del, XM_017024661.1:c.*2885_*2886del, XM_017024661.1:c.*2886del, XM_017024661.1:c.*2886dup, XM_017024661.1:c.*2885_*2886dup, XM_024450764.1:c.*2879_*2886del, XM_024450764.1:c.*2881_*2886del, XM_024450764.1:c.*2882_*2886del, XM_024450764.1:c.*2884_*2886del, XM_024450764.1:c.*2885_*2886del, XM_024450764.1:c.*2886del, XM_024450764.1:c.*2886dup, XM_024450764.1:c.*2885_*2886dup
          5.

          rs1490968300 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:3491307 (GRCh38)
            17:3394601 (GRCh37)
            Canonical SPDI:
            NC_000017.11:3491306:G:A
            Gene:
            ASPA (Varview), SPATA22 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1490962577 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:3499389 (GRCh38)
              17:3402683 (GRCh37)
              Canonical SPDI:
              NC_000017.11:3499388:T:C
              Gene:
              ASPA (Varview), SPATA22 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000021/3 (GnomAD)
              C=0.000038/10 (TOPMED)
              HGVS:
              7.

              rs1490919822 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                17:3473304 (GRCh38)
                17:3376598 (GRCh37)
                Canonical SPDI:
                NC_000017.11:3473303:T:A
                Gene:
                ASPA (Varview), SPATA22 (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490784249 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  17:3490744 (GRCh38)
                  17:3394038 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:3490743:T:C,NC_000017.11:3490743:T:G
                  Gene:
                  ASPA (Varview), SPATA22 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000014/2 (GnomAD)
                  G=0.000023/6 (TOPMED)
                  HGVS:
                  9.

                  rs1490760313 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:3474537 (GRCh38)
                    17:3377831 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:3474536:G:A
                    Gene:
                    ASPA (Varview), SPATA22 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490741167 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:3474245 (GRCh38)
                      17:3377539 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:3474244:A:G
                      Gene:
                      ASPA (Varview), SPATA22 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490567767 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:3498752 (GRCh38)
                        17:3402046 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:3498751:C:T
                        Gene:
                        ASPA (Varview), SPATA22 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490470140 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          17:3499974 (GRCh38)
                          17:3403268 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:3499973:C:A,NC_000017.11:3499973:C:G
                          Gene:
                          ASPA (Varview), SPATA22 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490292028 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:3491216 (GRCh38)
                            17:3394510 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:3491215:T:C
                            Gene:
                            ASPA (Varview), SPATA22 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000014/2 (GnomAD)
                            C=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1490078306 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              17:3484048 (GRCh38)
                              17:3387342 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:3484047:C:A
                              Gene:
                              ASPA (Varview), SPATA22 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489806416 has merged into rs540965896 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                17:3491886 (GRCh38)
                                17:3395180 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3491877:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                ASPA (Varview), SPATA22 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTT=0./0 (ALFA)
                                HGVS:
                                NC_000017.11:g.3491886_3491895del, NC_000017.11:g.3491887_3491895del, NC_000017.11:g.3491888_3491895del, NC_000017.11:g.3491889_3491895del, NC_000017.11:g.3491891_3491895del, NC_000017.11:g.3491892_3491895del, NC_000017.11:g.3491893_3491895del, NC_000017.11:g.3491894_3491895del, NC_000017.11:g.3491895del, NC_000017.11:g.3491895dup, NC_000017.11:g.3491894_3491895dup, NC_000017.11:g.3491893_3491895dup, NC_000017.11:g.3491892_3491895dup, NC_000017.11:g.3491891_3491895dup, NC_000017.11:g.3491890_3491895dup, NC_000017.11:g.3491889_3491895dup, NC_000017.11:g.3491888_3491895dup, NC_000017.11:g.3491887_3491895dup, NC_000017.11:g.3491886_3491895dup, NC_000017.11:g.3491885_3491895dup, NC_000017.11:g.3491884_3491895dup, NC_000017.11:g.3491883_3491895dup, NC_000017.11:g.3491882_3491895dup, NC_000017.11:g.3491881_3491895dup, NC_000017.11:g.3491880_3491895dup, NC_000017.10:g.3395180_3395189del, NC_000017.10:g.3395181_3395189del, NC_000017.10:g.3395182_3395189del, NC_000017.10:g.3395183_3395189del, NC_000017.10:g.3395185_3395189del, NC_000017.10:g.3395186_3395189del, NC_000017.10:g.3395187_3395189del, NC_000017.10:g.3395188_3395189del, NC_000017.10:g.3395189del, NC_000017.10:g.3395189dup, NC_000017.10:g.3395188_3395189dup, NC_000017.10:g.3395187_3395189dup, NC_000017.10:g.3395186_3395189dup, NC_000017.10:g.3395185_3395189dup, NC_000017.10:g.3395184_3395189dup, NC_000017.10:g.3395183_3395189dup, NC_000017.10:g.3395182_3395189dup, NC_000017.10:g.3395181_3395189dup, NC_000017.10:g.3395180_3395189dup, NC_000017.10:g.3395179_3395189dup, NC_000017.10:g.3395178_3395189dup, NC_000017.10:g.3395177_3395189dup, NC_000017.10:g.3395176_3395189dup, NC_000017.10:g.3395175_3395189dup, NC_000017.10:g.3395174_3395189dup, NG_008399.2:g.23241_23250del, NG_008399.2:g.23242_23250del, NG_008399.2:g.23243_23250del, NG_008399.2:g.23244_23250del, NG_008399.2:g.23246_23250del, NG_008399.2:g.23247_23250del, NG_008399.2:g.23248_23250del, NG_008399.2:g.23249_23250del, NG_008399.2:g.23250del, NG_008399.2:g.23250dup, NG_008399.2:g.23249_23250dup, NG_008399.2:g.23248_23250dup, NG_008399.2:g.23247_23250dup, NG_008399.2:g.23246_23250dup, NG_008399.2:g.23245_23250dup, NG_008399.2:g.23244_23250dup, NG_008399.2:g.23243_23250dup, NG_008399.2:g.23242_23250dup, NG_008399.2:g.23241_23250dup, NG_008399.2:g.23240_23250dup, NG_008399.2:g.23239_23250dup, NG_008399.2:g.23238_23250dup, NG_008399.2:g.23237_23250dup, NG_008399.2:g.23236_23250dup, NG_008399.2:g.23235_23250dup
                                16.

                                rs1489763642 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:3500598 (GRCh38)
                                  17:3403892 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:3500597:G:A
                                  Gene:
                                  ASPA (Varview), SPATA22 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489763355 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    17:3475636 (GRCh38)
                                    17:3378930 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:3475635:T:G
                                    Gene:
                                    ASPA (Varview), SPATA22 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000038/10 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489667167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:3488872 (GRCh38)
                                      17:3392166 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:3488871:C:T
                                      Gene:
                                      ASPA (Varview), SPATA22 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489516407 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:3479326 (GRCh38)
                                        17:3382620 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:3479325:A:G
                                        Gene:
                                        ASPA (Varview), SPATA22 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489481884 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:3489364 (GRCh38)
                                          17:3392658 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:3489363:G:A
                                          Gene:
                                          ASPA (Varview), SPATA22 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          A=0.00002/5 (GnomAD_exomes)
                                          HGVS:

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