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Links from Gene

Items: 1 to 20 of 931

1.

rs1488738173 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    16:67485599 (GRCh38)
    16:67519502 (GRCh37)
    Canonical SPDI:
    NC_000016.10:67485598:T:G
    Gene:
    ATP6V0D1-DT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.0066/12 (Korea1K)
    G=0.0301/88 (KOREAN)
    HGVS:
    2.

    rs1487537785 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:67482440 (GRCh38)
      16:67516343 (GRCh37)
      Canonical SPDI:
      NC_000016.10:67482439:G:A
      Gene:
      AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1486265996 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        16:67485080 (GRCh38)
        16:67518983 (GRCh37)
        Canonical SPDI:
        NC_000016.10:67485078:ACA:A
        Gene:
        AGRP (Varview), ATP6V0D1-DT (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1485873372 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          16:67482869 (GRCh38)
          16:67516772 (GRCh37)
          Canonical SPDI:
          NC_000016.10:67482868:T:A
          Gene:
          AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1483810036 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            16:67482609 (GRCh38)
            16:67516512 (GRCh37)
            Canonical SPDI:
            NC_000016.10:67482608:C:G
            Gene:
            AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.00005/1 (ALFA)
            HGVS:
            6.

            rs1483701945 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              16:67484914 (GRCh38)
              16:67518817 (GRCh37)
              Canonical SPDI:
              NC_000016.10:67484913:A:G
              Gene:
              AGRP (Varview), ATP6V0D1-DT (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000021/3 (GnomAD)
              G=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1482346920 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:67482989 (GRCh38)
                16:67516892 (GRCh37)
                Canonical SPDI:
                NC_000016.10:67482988:A:G
                Gene:
                AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1481888081 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:67485360 (GRCh38)
                  16:67519263 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:67485359:C:T
                  Gene:
                  AGRP (Varview), ATP6V0D1-DT (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1480367718 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:67484610 (GRCh38)
                    16:67518513 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:67484609:C:T
                    Gene:
                    AGRP (Varview), ATP6V0D1-DT (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000035/1 (TOMMO)
                    T=0.000546/1 (Korea1K)
                    T=0.000684/2 (KOREAN)
                    HGVS:
                    10.

                    rs1480184252 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      16:67483776 (GRCh38)
                      16:67517679 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:67483775:GGG:GG
                      Gene:
                      AGRP (Varview), ATP6V0D1-DT (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GG=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1479391627 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        16:67485072 (GRCh38)
                        16:67518975 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:67485071:C:G
                        Gene:
                        AGRP (Varview), ATP6V0D1-DT (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1478732518 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:67483988 (GRCh38)
                          16:67517891 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:67483987:G:A
                          Gene:
                          AGRP (Varview), ATP6V0D1-DT (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1478557125 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:67484574 (GRCh38)
                            16:67518477 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:67484573:C:T
                            Gene:
                            AGRP (Varview), ATP6V0D1-DT (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1478227609 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              16:67482613 (GRCh38)
                              16:67516516 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:67482612:G:A,NC_000016.10:67482612:G:T
                              Gene:
                              AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1477100645 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                16:67483511 (GRCh38)
                                16:67517414 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:67483510:A:C
                                Gene:
                                AGRP (Varview), ATP6V0D1-DT (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1476394754 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:67482570 (GRCh38)
                                  16:67516473 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:67482569:G:A
                                  Gene:
                                  AGRP (Varview), ATP6V0D1 (Varview), ATP6V0D1-DT (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000671/3 (ALFA)
                                  A=0.000036/5 (GnomAD)
                                  A=0.000893/4 (Estonian)
                                  HGVS:
                                  17.

                                  rs1475576131 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    16:67484152 (GRCh38)
                                    16:67518055 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:67484151:C:G
                                    Gene:
                                    AGRP (Varview), ATP6V0D1-DT (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000142/2 (ALFA)
                                    G=0.00003/8 (TOPMED)
                                    G=0.000036/5 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1474863695 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      16:67483890 (GRCh38)
                                      16:67517793 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:67483889:C:G
                                      Gene:
                                      AGRP (Varview), ATP6V0D1-DT (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1474716990 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        16:67484755 (GRCh38)
                                        16:67518658 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:67484754:C:G
                                        Gene:
                                        AGRP (Varview), ATP6V0D1-DT (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1474173149 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:67485663 (GRCh38)
                                          16:67519566 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:67485662:A:G
                                          Gene:
                                          ATP6V0D1-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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