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Items: 1 to 20 of 125

1.

rs1486725332 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    1:28593913 (GRCh38)
    1:28920425 (GRCh37)
    Canonical SPDI:
    NC_000001.11:28593912:G:C
    Gene:
    RAB42 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1486230156 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:28593979 (GRCh38)
      1:28920491 (GRCh37)
      Canonical SPDI:
      NC_000001.11:28593978:C:G,NC_000001.11:28593978:C:T
      Gene:
      RAB42 (Varview)
      Functional Consequence:
      intron_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000108/2 (ALFA)
      T=0.000008/2 (GnomAD_exomes)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1479698816 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:28594109 (GRCh38)
        1:28920621 (GRCh37)
        Canonical SPDI:
        NC_000001.11:28594108:C:T
        Gene:
        RAB42 (Varview)
        Functional Consequence:
        stop_gained,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.
        5.

        rs1468463816 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:28593973 (GRCh38)
          1:28920485 (GRCh37)
          Canonical SPDI:
          NC_000001.11:28593972:C:T
          Gene:
          RAB42 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          6.

          rs1463422503 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:28593822 (GRCh38)
            1:28920334 (GRCh37)
            Canonical SPDI:
            NC_000001.11:28593821:A:G
            Gene:
            RAB42 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            G=0.000006/1 (GnomAD_exomes)
            HGVS:
            7.

            rs1462982688 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>- [Show Flanks]
              Chromosome:
              1:28593817 (GRCh38)
              1:28920329 (GRCh37)
              Canonical SPDI:
              NC_000001.11:28593816:GG:G
              Gene:
              RAB42 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GG=0./0 (ALFA)
              HGVS:
              8.

              rs1454883857 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:28594010 (GRCh38)
                1:28920522 (GRCh37)
                Canonical SPDI:
                NC_000001.11:28594009:G:A
                Gene:
                RAB42 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000111/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                9.

                rs1440861683 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:28593869 (GRCh38)
                  1:28920381 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:28593868:C:T
                  Gene:
                  RAB42 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000005/1 (GnomAD_exomes)
                  T=0.000015/4 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  10.

                  rs1438179758 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:28593808 (GRCh38)
                    1:28920320 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:28593807:T:C
                    Gene:
                    RAB42 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000012/2 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1434121560 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:28593844 (GRCh38)
                      1:28920356 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:28593843:C:T
                      Gene:
                      RAB42 (Varview)
                      Functional Consequence:
                      synonymous_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000087/23 (TOPMED)
                      HGVS:
                      12.

                      rs1419238037 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:28593818 (GRCh38)
                        1:28920330 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:28593817:G:A
                        Gene:
                        RAB42 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1417111666 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:28594081 (GRCh38)
                          1:28920593 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:28594080:C:T
                          Gene:
                          RAB42 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          14.

                          rs1413651593 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:28593835 (GRCh38)
                            1:28920347 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:28593834:G:A
                            Gene:
                            RAB42 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            15.

                            rs1399622159 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:28593883 (GRCh38)
                              1:28920395 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:28593882:C:T
                              Gene:
                              RAB42 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant
                              HGVS:
                              16.

                              rs1397912924 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:28594086 (GRCh38)
                                1:28920598 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:28594085:G:A
                                Gene:
                                RAB42 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant
                                HGVS:
                                17.

                                rs1396280242 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:28593865 (GRCh38)
                                  1:28920377 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:28593864:C:T
                                  Gene:
                                  RAB42 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1393607607 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:28594022 (GRCh38)
                                    1:28920534 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:28594021:C:A
                                    Gene:
                                    RAB42 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1392563204 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:28593896 (GRCh38)
                                      1:28920408 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:28593895:G:T
                                      Gene:
                                      RAB42 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,stop_gained
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000019/5 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1383786115 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:28593949 (GRCh38)
                                        1:28920461 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:28593948:C:G
                                        Gene:
                                        RAB42 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        HGVS:

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