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Items: 1 to 20 of 1143

1.

rs892325 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G,T [Show Flanks]
    Chromosome:
    10:130963379 (GRCh38)
    10:132761642 (GRCh37)
    Canonical SPDI:
    NC_000010.11:130963378:A:C,NC_000010.11:130963378:A:G,NC_000010.11:130963378:A:T
    Gene:
    MIR378C (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.308914/5621 (ALFA)
    T=0./0 (KOREAN)
    G=0.259259/56 (Qatari)
    G=0.315179/1412 (Estonian)
    G=0.316613/1174 (TWINSUK)
    G=0.324079/1249 (ALSPAC)
    G=0.325/13 (GENOME_DK)
    G=0.329013/1648 (1000Genomes)
    G=0.331112/87642 (TOPMED)
    G=0.333667/333 (GoNL)
    G=0.336773/47093 (GnomAD)
    G=0.353333/212 (NorthernSweden)
    G=0.374903/6283 (TOMMO)
    A=0.375/120 (SGDP_PRJ)
    G=0.411026/753 (Korea1K)
    A=0.5/11 (Siberian)
    HGVS:
    2.

    rs2397741 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      10:130963758 (GRCh38)
      10:132762021 (GRCh37)
      Canonical SPDI:
      NC_000010.11:130963757:A:G,NC_000010.11:130963757:A:T
      Gene:
      MIR378C (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.312154/8003 (ALFA)
      G=0.242812/152 (Chileans)
      G=0.259259/56 (Qatari)
      G=0.315625/1414 (Estonian)
      G=0.316073/1172 (TWINSUK)
      G=0.323819/1248 (ALSPAC)
      G=0.325/13 (GENOME_DK)
      G=0.329013/1648 (1000Genomes)
      G=0.330613/87510 (TOPMED)
      G=0.332665/332 (GoNL)
      G=0.33492/46645 (GnomAD)
      G=0.353333/212 (NorthernSweden)
      G=0.368644/696 (HapMap)
      G=0.372248/6239 (TOMMO)
      A=0.378125/121 (SGDP_PRJ)
      G=0.412118/755 (Korea1K)
      G=0.443345/1299 (KOREAN)
      A=0.458333/11 (Siberian)
      HGVS:
      3.

      rs7096489 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        10:130962856 (GRCh38)
        10:132761119 (GRCh37)
        Canonical SPDI:
        NC_000010.11:130962855:G:C,NC_000010.11:130962855:G:T
        Gene:
        MIR378C (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.081335/1323 (ALFA)
        C=0.12963/28 (Qatari)
        C=0.143474/532 (TWINSUK)
        C=0.146341/38735 (TOPMED)
        C=0.155/93 (NorthernSweden)
        C=0.157758/608 (ALSPAC)
        C=0.166333/166 (GoNL)
        C=0.175223/785 (Estonian)
        C=0.177215/56 (HapMap)
        C=0.182854/916 (1000Genomes)
        C=0.365741/79 (Vietnamese)
        C=0.371892/6228 (TOMMO)
        C=0.404476/741 (Korea1K)
        C=0.434471/1273 (KOREAN)
        G=0.441176/105 (SGDP_PRJ)
        G=0.5/7 (Siberian)
        HGVS:
        4.

        rs7912778 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:130963442 (GRCh38)
          10:132761705 (GRCh37)
          Canonical SPDI:
          NC_000010.11:130963441:T:C
          Gene:
          MIR378C (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.008738/126 (ALFA)
          C=0.009838/49 (1000Genomes)
          C=0.011664/1630 (GnomAD)
          C=0.012399/3282 (TOPMED)
          T=0.375/3 (SGDP_PRJ)
          HGVS:
          5.

          rs11017616 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            10:130962690 (GRCh38)
            10:132760953 (GRCh37)
            Canonical SPDI:
            NC_000010.11:130962689:G:A,NC_000010.11:130962689:G:C
            Gene:
            MIR378C (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.231117/2656 (ALFA)
            C=0.314607/168 (MGP)
            C=0.328704/71 (Qatari)
            C=0.351016/5883 (TOMMO)
            G=0.358824/122 (SGDP_PRJ)
            C=0.359813/77 (Vietnamese)
            C=0.377847/1692 (Estonian)
            C=0.384017/1480 (ALSPAC)
            C=0.384574/1426 (TWINSUK)
            C=0.384864/595 (ExAC)
            C=0.386165/1934 (1000Genomes)
            C=0.3881/711 (Korea1K)
            C=0.399588/105767 (TOPMED)
            C=0.4/16 (GENOME_DK)
            C=0.402806/402 (GoNL)
            C=0.419753/136 (HapMap)
            C=0.423208/1240 (KOREAN)
            C=0.443333/266 (NorthernSweden)
            G=0.461538/12 (Siberian)
            HGVS:
            6.

            rs11017617 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:130963819 (GRCh38)
              10:132762082 (GRCh37)
              Canonical SPDI:
              NC_000010.11:130963818:G:A
              Gene:
              MIR378C (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.003745/54 (ALFA)
              A=0./0 (HapMap)
              A=0.00463/1 (Qatari)
              A=0.004663/654 (GnomAD)
              A=0.004968/1315 (TOPMED)
              A=0.005153/26 (1000Genomes)
              G=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs12251473 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:130962358 (GRCh38)
                10:132760621 (GRCh37)
                Canonical SPDI:
                NC_000010.11:130962357:A:G
                Gene:
                MIR378C (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.004854/70 (ALFA)
                G=0./0 (HapMap)
                G=0./0 (TWINSUK)
                G=0.000035/1 (TOMMO)
                G=0.000259/1 (ALSPAC)
                G=0.005891/826 (GnomAD)
                G=0.006317/1672 (TOPMED)
                G=0.006871/34 (1000Genomes)
                G=0.009259/2 (Qatari)
                A=0.5/1 (SGDP_PRJ)
                HGVS:
                8.

                rs12255376 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  10:130963961 (GRCh38)
                  10:132762224 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:130963960:A:T
                  Gene:
                  MIR378C (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.005825/84 (ALFA)
                  T=0.003333/1 (HapMap)
                  T=0.007905/1109 (GnomAD)
                  T=0.008587/2273 (TOPMED)
                  T=0.010618/53 (1000Genomes)
                  A=0.5/4 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs12572473 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:130963704 (GRCh38)
                    10:132761967 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:130963703:G:A
                    Gene:
                    MIR378C (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.00133/18 (TOMMO)
                    A=0.00294/5 (Korea1K)
                    A=0.04182/23 (NorthernSweden)
                    A=0.08539/5376 (GnomAD)
                    A=0.14317/717 (1000Genomes)
                    G=0.48148/52 (SGDP_PRJ)
                    G=0.5/5 (Siberian)
                    HGVS:
                    10.

                    rs12572480 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      10:130963706 (GRCh38)
                      10:132761969 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:130963705:G:A,NC_000010.11:130963705:G:T
                      Gene:
                      MIR378C (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00735/108 (ALFA)
                      A=0.00118/2 (Korea1K)
                      A=0.167/13141 (PAGE_STUDY)
                      G=0.46429/13 (SGDP_PRJ)
                      G=0.5/1 (Siberian)
                      HGVS:
                      11.

                      rs35818140 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        10:130962329 (GRCh38)
                        10:132760592 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:130962328:C:A,NC_000010.11:130962328:C:G
                        Gene:
                        MIR378C (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.144786/2735 (ALFA)
                        G=0.12963/28 (Qatari)
                        G=0.143743/533 (TWINSUK)
                        G=0.146485/38773 (TOPMED)
                        G=0.155/93 (NorthernSweden)
                        G=0.158018/609 (ALSPAC)
                        G=0.166333/166 (GoNL)
                        G=0.17433/781 (Estonian)
                        G=0.175/7 (GENOME_DK)
                        G=0.183167/917 (1000Genomes)
                        G=0.372284/6239 (TOMMO)
                        G=0.405568/743 (Korea1K)
                        G=0.435495/1276 (KOREAN)
                        C=0.441176/105 (SGDP_PRJ)
                        C=0.5/7 (Siberian)
                        HGVS:
                        12.

                        rs57813555 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAGAGA>-,AAAAAAAAGAGAAAAAAAAAGAGA [Show Flanks]
                          Chromosome:
                          10:130963696 (GRCh38)
                          10:132761959 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:130963694:AAAAAAAAAGAGA:A,NC_000010.11:130963694:AAAAAAAAAGAGA:AAAAAAAAAGAGAAAAAAAAAGAGA
                          Gene:
                          MIR378C (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.099342/1600 (ALFA)
                          -=0.008446/5 (NorthernSweden)
                          -=0.126384/16112 (GnomAD)
                          -=0.12972/481 (TWINSUK)
                          -=0.143228/552 (ALSPAC)
                          -=0.186901/936 (1000Genomes)
                          -=0.269869/4053 (TOMMO)
                          HGVS:
                          13.

                          rs58697327 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:130963528 (GRCh38)
                            10:132761791 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:130963527:G:A
                            Gene:
                            MIR378C (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000043/6 (GnomAD)
                            A=0.000068/18 (TOPMED)
                            A=0.000312/2 (1000Genomes)
                            A=0.000425/7 (TOMMO)
                            HGVS:
                            14.

                            rs72847818 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:130963020 (GRCh38)
                              10:132761283 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:130963019:T:C
                              Gene:
                              MIR378C (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.113505/1928 (ALFA)
                              C=0.052164/847 (TOMMO)
                              C=0.058489/6827 (GnomAD)
                              C=0.09/54 (NorthernSweden)
                              C=0.125/27 (Qatari)
                              C=0.184471/335 (Korea1K)
                              C=0.335836/984 (KOREAN)
                              T=0.5/112 (SGDP_PRJ)
                              T=0.5/7 (Siberian)
                              HGVS:
                              15.

                              rs73388279 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                10:130964216 (GRCh38)
                                10:132762479 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:130964215:C:G
                                Gene:
                                MIR378C (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.001942/28 (ALFA)
                                G=0.002046/287 (GnomAD)
                                G=0.002138/566 (TOPMED)
                                G=0.002811/14 (1000Genomes)
                                HGVS:
                                16.

                                rs74160808 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  10:130963228 (GRCh38)
                                  10:132761491 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:130963227:A:T
                                  Gene:
                                  MIR378C (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.107994/2040 (ALFA)
                                  T=0.002513/42 (TOMMO)
                                  T=0.00655/12 (Korea1K)
                                  T=0.007187/21 (KOREAN)
                                  T=0.075/3 (GENOME_DK)
                                  T=0.086352/432 (1000Genomes)
                                  T=0.092857/416 (Estonian)
                                  T=0.099896/385 (ALSPAC)
                                  T=0.102751/381 (TWINSUK)
                                  T=0.111927/29626 (TOPMED)
                                  T=0.113302/15882 (GnomAD)
                                  T=0.11523/115 (GoNL)
                                  T=0.118333/71 (NorthernSweden)
                                  T=0.12037/26 (Qatari)
                                  A=0.442857/31 (SGDP_PRJ)
                                  A=0.5/3 (Siberian)
                                  HGVS:
                                  17.

                                  rs74160809 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:130963907 (GRCh38)
                                    10:132762170 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:130963906:A:G
                                    Gene:
                                    MIR378C (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.170106/3264 (ALFA)
                                    G=0.002583/43 (TOMMO)
                                    G=0.004717/1 (Vietnamese)
                                    G=0.00655/12 (Korea1K)
                                    G=0.007529/22 (KOREAN)
                                    G=0.12963/28 (Qatari)
                                    G=0.134291/673 (1000Genomes)
                                    G=0.141295/633 (Estonian)
                                    G=0.15/6 (GENOME_DK)
                                    G=0.167099/644 (ALSPAC)
                                    G=0.168337/168 (GoNL)
                                    G=0.173409/643 (TWINSUK)
                                    G=0.174109/46085 (TOPMED)
                                    G=0.175932/24653 (GnomAD)
                                    G=0.198333/119 (NorthernSweden)
                                    A=0.423077/44 (SGDP_PRJ)
                                    A=0.5/6 (Siberian)
                                    HGVS:
                                    18.

                                    rs74160810 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      10:130963939 (GRCh38)
                                      10:132762202 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:130963938:C:G,NC_000010.11:130963938:C:T
                                      Gene:
                                      MIR378C (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.041604/663 (ALFA)
                                      T=0.002583/43 (TOMMO)
                                      T=0.00655/12 (Korea1K)
                                      T=0.007187/21 (KOREAN)
                                      T=0.075/3 (GENOME_DK)
                                      T=0.09308/417 (Estonian)
                                      T=0.099377/383 (ALSPAC)
                                      T=0.102211/379 (TWINSUK)
                                      T=0.111024/556 (1000Genomes)
                                      T=0.11523/115 (GoNL)
                                      T=0.118333/71 (NorthernSweden)
                                      T=0.12963/28 (Qatari)
                                      T=0.136076/36018 (TOPMED)
                                      C=0.414634/34 (SGDP_PRJ)
                                      C=0.5/3 (Siberian)
                                      HGVS:
                                      19.

                                      rs74160811 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C,T [Show Flanks]
                                        Chromosome:
                                        10:130964334 (GRCh38)
                                        10:132762597 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:130964333:G:A,NC_000010.11:130964333:G:C,NC_000010.11:130964333:G:T
                                        Gene:
                                        MIR378C (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.00013/2 (ALFA)
                                        A=0.00125/6 (1000Genomes)
                                        C=0.00258/43 (TOMMO)
                                        C=0.00655/12 (Korea1K)
                                        C=0.00719/21 (KOREAN)
                                        C=0.075/3 (GENOME_DK)
                                        C=0.09294/416 (Estonian)
                                        C=0.09938/383 (ALSPAC)
                                        C=0.10194/378 (TWINSUK)
                                        C=0.11523/115 (GoNL)
                                        C=0.11833/71 (NorthernSweden)
                                        C=0.12963/28 (Qatari)
                                        G=0.41463/34 (SGDP_PRJ)
                                        G=0.5/3 (Siberian)
                                        HGVS:
                                        20.

                                        rs75306938 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          10:130962226 (GRCh38)
                                          10:132760489 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:130962225:C:G
                                          Gene:
                                          MIR378C (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.009223/133 (ALFA)
                                          G=0.009259/2 (Qatari)
                                          G=0.010931/55 (1000Genomes)
                                          G=0.012678/1778 (GnomAD)
                                          G=0.013574/3593 (TOPMED)
                                          C=0.4/4 (SGDP_PRJ)
                                          HGVS:

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