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Items: 1 to 20 of 77567

1.

rs781778542 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:15604125 (GRCh38)
    16:15697982 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15604124:A:G
    Gene:
    MARF1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000008/1 (ExAC)
    G=0.000016/4 (GnomAD_exomes)
    HGVS:
    2.

    rs781777713 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      16:16961905 (GRCh38)
      16:17055762 (GRCh37)
      Canonical SPDI:
      NC_000016.10:16961904:G:A,NC_000016.10:16961904:G:C
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs781777283 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        16:16131880 (GRCh38)
        16:16225737 (GRCh37)
        Canonical SPDI:
        NC_000016.10:16131879:A:C,NC_000016.10:16131879:A:G
        Gene:
        ABCC1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000008/1 (ExAC)
        HGVS:
        NC_000016.10:g.16131880A>C, NC_000016.10:g.16131880A>G, NC_000016.9:g.16225737A>C, NC_000016.9:g.16225737A>G, NG_028268.2:g.187304A>C, NG_028268.2:g.187304A>G, NM_004996.4:c.3911A>C, NM_004996.4:c.3911A>G, NM_004996.3:c.3911A>C, NM_004996.3:c.3911A>G, NT_187607.1:g.1789766A>C, NT_187607.1:g.1789766A>G, NM_019898.2:c.3743A>C, NM_019898.2:c.3743A>G, NM_019862.2:c.3734A>C, NM_019862.2:c.3734A>G, NM_019900.2:c.3911A>C, NM_019900.2:c.3911A>G, XM_011522498.2:c.3818A>C, XM_011522498.2:c.3818A>G, NM_019899.2:c.3566A>C, NM_019899.2:c.3566A>G, XM_011522497.1:c.3887A>C, XM_011522497.1:c.3887A>G, XM_017023239.1:c.3827A>C, XM_017023239.1:c.3827A>G, XM_017023237.1:c.3965A>C, XM_017023237.1:c.3965A>G, NM_019902.1:c.3764A>C, NM_019902.1:c.3764A>G, XM_017023240.1:c.3788A>C, XM_017023240.1:c.3788A>G, XM_017023241.1:c.3701A>C, XM_017023241.1:c.3701A>G, XM_017023242.1:c.3620A>C, XM_017023242.1:c.3620A>G, NM_019901.1:c.3785A>C, NM_019901.1:c.3785A>G, NM_019862.1:c.3734A>C, NM_019862.1:c.3734A>G, NM_019900.1:c.3911A>C, NM_019900.1:c.3911A>G, NM_019899.1:c.3566A>C, NM_019899.1:c.3566A>G, XM_017023238.1:c.3839A>C, XM_017023238.1:c.3839A>G, NM_019898.1:c.3743A>C, NM_019898.1:c.3743A>G, NP_004987.2:p.Glu1304Ala, NP_004987.2:p.Glu1304Gly, XP_011520800.1:p.Glu1273Ala, XP_011520800.1:p.Glu1273Gly, XP_011520799.1:p.Glu1296Ala, XP_011520799.1:p.Glu1296Gly, XP_016878728.1:p.Glu1276Ala, XP_016878728.1:p.Glu1276Gly, XP_016878726.1:p.Glu1322Ala, XP_016878726.1:p.Glu1322Gly, XP_016878729.1:p.Glu1263Ala, XP_016878729.1:p.Glu1263Gly, XP_016878730.1:p.Glu1234Ala, XP_016878730.1:p.Glu1234Gly, XP_016878731.1:p.Glu1207Ala, XP_016878731.1:p.Glu1207Gly, XP_016878727.1:p.Glu1280Ala, XP_016878727.1:p.Glu1280Gly
        4.

        rs781776897 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          16:16003553 (GRCh38)
          16:16097410 (GRCh37)
          Canonical SPDI:
          NC_000016.10:16003552:G:A,NC_000016.10:16003552:G:T
          Gene:
          ABCC1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000956/16 (TOMMO)
          T=0.034281/3607 (GnomAD)
          T=0.054795/32 (NorthernSweden)
          T=0.055099/161 (KOREAN)
          T=0.12963/28 (Qatari)
          G=0.421053/16 (SGDP_PRJ)
          HGVS:
          5.

          rs781776844 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            16:16052705 (GRCh38)
            16:16146562 (GRCh37)
            Canonical SPDI:
            NC_000016.10:16052704:G:T
            Gene:
            ABCC1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            T=0.000033/4 (ExAC)
            T=0.000036/9 (GnomAD_exomes)
            HGVS:
            6.

            rs781776252 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              16:16080113 (GRCh38)
              16:16173970 (GRCh37)
              Canonical SPDI:
              NC_000016.10:16080112:A:G
              Gene:
              ABCC1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000094/1 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs781771185 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:16084045 (GRCh38)
                16:16177902 (GRCh37)
                Canonical SPDI:
                NC_000016.10:16084044:A:G
                Gene:
                ABCC1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (TWINSUK)
                G=0.000011/3 (TOPMED)
                G=0.000021/3 (GnomAD)
                G=0.000259/1 (ALSPAC)
                HGVS:
                8.

                rs781769354 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:16169763 (GRCh38)
                  16:16263620 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:16169762:C:T
                  Gene:
                  ABCC6 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000009/2 (GnomAD_exomes)
                  T=0.000011/3 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  T=0.000017/1 (ExAC)
                  HGVS:
                  9.

                  rs781767040 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:14457355 (GRCh38)
                    16:14551212 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:14457354:G:A
                    Gene:
                    PARN (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0./0 (ALSPAC)
                    A=0.0003/1 (TWINSUK)
                    HGVS:
                    10.

                    rs781766739 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      16:14928353 (GRCh38)
                      16:15022210 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:14928352:G:A,NC_000016.10:14928352:G:T
                      Gene:
                      LOC100288162 (Varview), PKD1P3-NPIPA1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0./0 (GnomAD)
                      A=0.000991/4 (ExAC)
                      HGVS:
                      11.

                      rs781764393 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:16058714 (GRCh38)
                        16:16152571 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:16058713:T:C
                        Gene:
                        ABCC1 (Varview)
                        Functional Consequence:
                        intron_variant
                        HGVS:
                        12.

                        rs781760424 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          16:16876978 (GRCh38)
                          16:16970835 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:16876977:G:C
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000624/9 (ALFA)
                          C=0./0 (ALSPAC)
                          C=0.00027/1 (TWINSUK)
                          C=0.000314/44 (GnomAD)
                          C=0.000393/104 (TOPMED)
                          HGVS:
                          13.

                          rs781758622 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            16:15786755 (GRCh38)
                            16:15880612 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:15786754:C:A
                            Gene:
                            MYH11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            A=0.000016/4 (GnomAD_exomes)
                            A=0.000047/5 (ExAC)
                            A=0.001667/1 (NorthernSweden)
                            HGVS:
                            14.

                            rs781756925 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:16153108 (GRCh38)
                              16:16246965 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:16153107:T:C
                              Gene:
                              ABCC6 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by cluster
                              HGVS:
                              15.

                              rs781755968 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:15724743 (GRCh38)
                                16:15818600 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:15724742:C:T
                                Gene:
                                MYH11 (Varview), NDE1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/1 (ExAC)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs781754239 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  16:15715020 (GRCh38)
                                  16:15808877 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:15715019:T:G
                                  Gene:
                                  MYH11 (Varview), NDE1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000008/1 (ExAC)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs781748207 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    16:16102905 (GRCh38)
                                    16:16196762 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:16102904:T:C
                                    Gene:
                                    ABCC1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000285/4 (ALFA)
                                    C=0.000157/22 (GnomAD)
                                    C=0.00017/45 (TOPMED)
                                    HGVS:
                                    18.

                                    rs781748142 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      16:16993653 (GRCh38)
                                      16:17087510 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:16993652:T:A
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0./0 (TWINSUK)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000259/1 (ALSPAC)
                                      HGVS:
                                      19.

                                      rs781746357 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:14868661 (GRCh38)
                                        16:14962518 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:14868660:A:G
                                        Gene:
                                        NOMO1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000008/2 (GnomAD_exomes)
                                        G=0.000017/2 (ExAC)
                                        HGVS:
                                        20.

                                        rs781746061 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:15597389 (GRCh38)
                                          16:15691246 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:15597388:A:G
                                          Gene:
                                          MARF1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000214/3 (ALFA)
                                          G=0./0 (ALSPAC)
                                          G=0.00005/7 (GnomAD)
                                          G=0.000053/14 (TOPMED)
                                          G=0.00027/1 (TWINSUK)
                                          HGVS:

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