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Links from Protein

Items: 1 to 20 of 367

1.

rs781501299 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    7:23260590 (GRCh38)
    7:23300209 (GRCh37)
    Canonical SPDI:
    NC_000007.14:23260589:A:G
    Gene:
    GPNMB (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/1 (ExAC)
    G=0.000008/2 (TOPMED)
    G=0.000012/3 (GnomAD_exomes)
    HGVS:
    2.

    rs781499634 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:23273522 (GRCh38)
      7:23313141 (GRCh37)
      Canonical SPDI:
      NC_000007.14:23273521:C:T
      Gene:
      GPNMB (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000008/1 (ExAC)
      HGVS:
      3.

      rs780971042 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:23274130 (GRCh38)
        7:23313749 (GRCh37)
        Canonical SPDI:
        NC_000007.14:23274129:G:A
        Gene:
        GPNMB (Varview)
        Functional Consequence:
        coding_sequence_variant,3_prime_UTR_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0./0 (TWINSUK)
        A=0.0003/1 (ALSPAC)
        HGVS:
        4.

        rs780961546 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          7:23259997 (GRCh38)
          7:23299616 (GRCh37)
          Canonical SPDI:
          NC_000007.14:23259996:T:C
          Gene:
          GPNMB (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000014/2 (GnomAD)
          C=0.000025/3 (ExAC)
          C=0.000032/8 (GnomAD_exomes)
          C=0.000053/14 (TOPMED)
          HGVS:
          5.

          rs780635369 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:23274100 (GRCh38)
            7:23313719 (GRCh37)
            Canonical SPDI:
            NC_000007.14:23274099:C:T
            Gene:
            GPNMB (Varview)
            Functional Consequence:
            coding_sequence_variant,3_prime_UTR_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/1 (ExAC)
            T=0.000008/2 (GnomAD_exomes)
            T=0.000008/2 (TOPMED)
            HGVS:
            7.

            rs779877922 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:23274172 (GRCh38)
              7:23313791 (GRCh37)
              Canonical SPDI:
              NC_000007.14:23274171:A:G
              Gene:
              GPNMB (Varview)
              Functional Consequence:
              coding_sequence_variant,3_prime_UTR_variant,missense_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              G=0.000008/1 (ExAC)
              HGVS:
              8.

              rs779709220 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                7:23253347 (GRCh38)
                7:23292966 (GRCh37)
                Canonical SPDI:
                NC_000007.14:23253346:C:A
                Gene:
                GPNMB (Varview)
                Functional Consequence:
                coding_sequence_variant,stop_gained
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                A=0.000008/1 (ExAC)
                HGVS:
                9.

                rs779323770 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  7:23260479 (GRCh38)
                  7:23300098 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:23260478:A:C
                  Gene:
                  GPNMB (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000008/1 (ExAC)
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  10.

                  rs779307691 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:23270075 (GRCh38)
                    7:23309694 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:23270074:A:G
                    Gene:
                    GPNMB (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    G=0.000008/1 (ExAC)
                    HGVS:
                    11.

                    rs779235718 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:23254178 (GRCh38)
                      7:23293797 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:23254177:T:C
                      Gene:
                      GPNMB (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000008/2 (GnomAD_exomes)
                      C=0.000017/2 (ExAC)
                      HGVS:
                      13.

                      rs779226838 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:23266507 (GRCh38)
                        7:23306126 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:23266506:A:G
                        Gene:
                        GPNMB (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000051/1 (ALFA)
                        G=0./0 (GnomAD)
                        G=0.000056/14 (GnomAD_exomes)
                        G=0.000074/9 (ExAC)
                        A=0.5/1 (SGDP_PRJ)
                        HGVS:
                        14.

                        rs779137072 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          7:23257029 (GRCh38)
                          7:23296648 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:23257028:A:G
                          Gene:
                          GPNMB (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000008/1 (ExAC)
                          HGVS:
                          15.

                          rs779031770 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:23269976 (GRCh38)
                            7:23309595 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:23269975:G:A
                            Gene:
                            GPNMB (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000045/2 (ALFA)
                            A=0.000015/4 (TOPMED)
                            A=0.000024/6 (GnomAD_exomes)
                            A=0.000025/3 (ExAC)
                            A=0.000029/4 (GnomAD)
                            HGVS:
                            16.

                            rs778947910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              7:23253361 (GRCh38)
                              7:23292980 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:23253360:A:T
                              Gene:
                              GPNMB (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.000008/2 (GnomAD_exomes)
                              T=0.000016/2 (ExAC)
                              HGVS:
                              17.

                              rs778549858 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                7:23260077 (GRCh38)
                                7:23299696 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:23260076:C:G
                                Gene:
                                GPNMB (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000008/1 (ExAC)
                                HGVS:
                                18.

                                rs778170840 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  7:23260553 (GRCh38)
                                  7:23300172 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:23260552:G:C
                                  Gene:
                                  GPNMB (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000008/1 (ExAC)
                                  HGVS:
                                  19.

                                  rs778007708 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:23246877 (GRCh38)
                                    7:23286496 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:23246876:T:C
                                    Gene:
                                    GPNMB (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000111/1 (ALFA)
                                    C=0.000008/1 (ExAC)
                                    C=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs777971169 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:23270077 (GRCh38)
                                      7:23309696 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:23270076:G:A
                                      Gene:
                                      GPNMB (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000139/5 (ALFA)
                                      A=0.000128/18 (GnomAD)
                                      A=0.000151/40 (TOPMED)
                                      A=0.000165/13 (PAGE_STUDY)
                                      A=0.000211/53 (GnomAD_exomes)
                                      A=0.000231/28 (ExAC)
                                      A=0.000546/1 (Korea1K)
                                      HGVS:

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