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Items: 1 to 20 of 2387

1.

rs1490620699 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    17:40796256 (GRCh38)
    17:38952508 (GRCh37)
    Canonical SPDI:
    NC_000017.11:40796255:C:G,NC_000017.11:40796255:C:T
    Gene:
    KRT28 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1490471712 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      17:40801469 (GRCh38)
      17:38957721 (GRCh37)
      Canonical SPDI:
      NC_000017.11:40801468:T:C
      Gene:
      KRT28 (Varview), LOC105371776 (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1489747359 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:40798132 (GRCh38)
        17:38954384 (GRCh37)
        Canonical SPDI:
        NC_000017.11:40798131:T:C
        Gene:
        KRT28 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489644025 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          17:40795035 (GRCh38)
          17:38951287 (GRCh37)
          Canonical SPDI:
          NC_000017.11:40795034:T:G
          Gene:
          KRT28 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000026/7 (TOPMED)
          G=0.000036/5 (GnomAD)
          HGVS:
          5.

          rs1489303817 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:40801713 (GRCh38)
            17:38957965 (GRCh37)
            Canonical SPDI:
            NC_000017.11:40801712:G:A
            Gene:
            KRT28 (Varview), LOC105371776 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1489289981 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:40795040 (GRCh38)
              17:38951292 (GRCh37)
              Canonical SPDI:
              NC_000017.11:40795039:A:G
              Gene:
              KRT28 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000026/7 (TOPMED)
              HGVS:
              7.

              rs1489190758 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:40799159 (GRCh38)
                17:38955411 (GRCh37)
                Canonical SPDI:
                NC_000017.11:40799158:A:G
                Gene:
                KRT28 (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:
                8.

                rs1488856574 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:40794541 (GRCh38)
                  17:38950793 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:40794540:A:G
                  Gene:
                  KRT28 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1488322423 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:40800530 (GRCh38)
                    17:38956782 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:40800529:T:C
                    Gene:
                    KRT28 (Varview), LOC105371776 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1488185459 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      17:40797362 (GRCh38)
                      17:38953614 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:40797361:T:G
                      Gene:
                      KRT28 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487956097 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:40794929 (GRCh38)
                        17:38951181 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:40794928:A:G
                        Gene:
                        KRT28 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1487677185 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:40795879 (GRCh38)
                          17:38952131 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:40795878:A:G
                          Gene:
                          KRT28 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487653143 has merged into rs779390617 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>-,CC [Show Flanks]
                            Chromosome:
                            17:40797079 (GRCh38)
                            17:38953331 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:40797078:CCCCC:CCCC,NC_000017.11:40797078:CCCCC:CCCCCC
                            Gene:
                            KRT28 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CCCCCC=0./0 (ALFA)
                            -=0.000004/1 (GnomAD_exomes)
                            -=0.000008/1 (ExAC)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1487588810 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:40797302 (GRCh38)
                              17:38953554 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:40797301:G:A
                              Gene:
                              KRT28 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1487580552 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                17:40800264 (GRCh38)
                                17:38956516 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:40800263:A:G,NC_000017.11:40800263:A:T
                                Gene:
                                KRT28 (Varview), LOC105371776 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487452501 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  17:40797292 (GRCh38)
                                  17:38953544 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:40797291:G:C
                                  Gene:
                                  KRT28 (Varview)
                                  Functional Consequence:
                                  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:
                                  17.

                                  rs1487327674 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:40795887 (GRCh38)
                                    17:38952139 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:40795886:G:A
                                    Gene:
                                    KRT28 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000034/9 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487297430 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:40797092 (GRCh38)
                                      17:38953344 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:40797091:G:T
                                      Gene:
                                      KRT28 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486143740 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:40794051 (GRCh38)
                                        17:38950303 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:40794050:G:A
                                        Gene:
                                        KRT28 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486033410 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:40798304 (GRCh38)
                                          17:38954556 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:40798303:C:T
                                          Gene:
                                          KRT28 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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