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Items: 1 to 20 of 2499

2.

rs1490752082 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    6:27252972 (GRCh38)
    6:27220751 (GRCh37)
    Canonical SPDI:
    NC_000006.12:27252971:A:C
    Gene:
    PRSS16 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    ...more
    HGVS:
    3.

    rs1490590166 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:27251972 (GRCh38)
      6:27219751 (GRCh37)
      Canonical SPDI:
      NC_000006.12:27251971:C:T
      Gene:
      PRSS16 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000009/2 (GnomAD_exomes)
      HGVS:
      4.

      rs1490572399 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        6:27246407 (GRCh38)
        6:27214186 (GRCh37)
        Canonical SPDI:
        NC_000006.12:27246406:T:A
        Gene:
        PRSS16 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        5.

        rs1490318200 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:27253940 (GRCh38)
          6:27221719 (GRCh37)
          Canonical SPDI:
          NC_000006.12:27253939:T:C
          Gene:
          PRSS16 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          6.

          rs1489713635 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            6:27245781 (GRCh38)
            6:27213560 (GRCh37)
            Canonical SPDI:
            NC_000006.12:27245780:T:G
            Gene:
            PRSS16 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            7.

            rs1489533276 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAGA>- [Show Flanks]
              Chromosome:
              6:27247232 (GRCh38)
              6:27215011 (GRCh37)
              Canonical SPDI:
              NC_000006.12:27247229:GAGAGA:GA
              Gene:
              PRSS16 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              GA=0./0 (ALFA)
              -=0.000015/4 (TOPMED)
              HGVS:
              8.

              rs1488713254 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                6:27250482 (GRCh38)
                6:27218261 (GRCh37)
                Canonical SPDI:
                NC_000006.12:27250481:G:T
                Gene:
                PRSS16 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000019/5 (TOPMED)
                ...more
                HGVS:
                10.

                rs1488305860 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  6:27254861 (GRCh38)
                  6:27222640 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:27254860:T:C
                  Gene:
                  PRSS16 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  11.

                  rs1487909003 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    6:27256569 (GRCh38)
                    6:27224348 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:27256568:A:T
                    Gene:
                    PRSS16 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    12.

                    rs1487721922 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:27251598 (GRCh38)
                      6:27219377 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:27251597:C:T
                      Gene:
                      PRSS16 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000016/2 (GnomAD)
                      HGVS:
                      13.

                      rs1487568213 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:27249834 (GRCh38)
                        6:27217613 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:27249833:C:T
                        Gene:
                        PRSS16 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        14.

                        rs1487546096 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:27252359 (GRCh38)
                          6:27220138 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:27252358:A:G
                          Gene:
                          PRSS16 (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)
                          ...more
                          HGVS:
                          15.

                          rs1487354790 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            6:27247097 (GRCh38)
                            6:27214876 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:27247096:T:C
                            Gene:
                            PRSS16 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            18.

                            rs1485726399 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              6:27247806 (GRCh38)
                              6:27215585 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:27247805:A:C
                              Gene:
                              PRSS16 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              19.

                              rs1485188014 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:27250491 (GRCh38)
                                6:27218270 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:27250490:T:C
                                Gene:
                                PRSS16 (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)
                                ...more
                                HGVS:
                                20.

                                rs1485095820 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:27253924 (GRCh38)
                                  6:27221703 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:27253923:A:G
                                  Gene:
                                  PRSS16 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000015/4 (TOPMED)
                                  ...more
                                  HGVS:

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