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Links from Protein

Items: 1 to 20 of 124

1.

rs1484691721 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:31094656 (GRCh38)
    16:31105977 (GRCh37)
    Canonical SPDI:
    NC_000016.10:31094655:T:C
    Gene:
    VKORC1 (Varview), LOC124903680 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
    HGVS:
    2.

    rs1482710449 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:31094707 (GRCh38)
      16:31106028 (GRCh37)
      Canonical SPDI:
      NC_000016.10:31094706:G:A
      Gene:
      VKORC1 (Varview), LOC124903680 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1479031158 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:31094578 (GRCh38)
        16:31105899 (GRCh37)
        Canonical SPDI:
        NC_000016.10:31094577:C:T
        Gene:
        VKORC1 (Varview), LOC124903680 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1475353614 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          16:31091289 (GRCh38)
          16:31102610 (GRCh37)
          Canonical SPDI:
          NC_000016.10:31091288:A:C
          Gene:
          VKORC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1464695762 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            16:31094723 (GRCh38)
            16:31106044 (GRCh37)
            Canonical SPDI:
            NC_000016.10:31094722:T:G
            Gene:
            VKORC1 (Varview), LOC124903680 (Varview)
            Functional Consequence:
            500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
            HGVS:
            6.

            rs1461261820 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:31091283 (GRCh38)
              16:31102604 (GRCh37)
              Canonical SPDI:
              NC_000016.10:31091282:C:T
              Gene:
              VKORC1 (Varview)
              Functional Consequence:
              missense_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=0.000106/3 (TOMMO)
              ...more
              HGVS:
              7.

              rs1458185698 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:31094677 (GRCh38)
                16:31105998 (GRCh37)
                Canonical SPDI:
                NC_000016.10:31094676:G:A
                Gene:
                VKORC1 (Varview), LOC124903680 (Varview)
                Functional Consequence:
                500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
                HGVS:
                8.

                rs1444963945 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  16:31094631 (GRCh38)
                  16:31105952 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:31094630:G:
                  Gene:
                  VKORC1 (Varview), LOC124903680 (Varview)
                  Functional Consequence:
                  frameshift_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  ...more
                  HGVS:
                  9.

                  rs1438822677 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:31094672 (GRCh38)
                    16:31105993 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:31094671:A:G
                    Gene:
                    VKORC1 (Varview), LOC124903680 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_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:
                    10.

                    rs1428301465 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GAG>- [Show Flanks]
                      Chromosome:
                      16:31094563 (GRCh38)
                      16:31105884 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:31094558:GGAGGAG:GGAG
                      Gene:
                      VKORC1 (Varview), LOC124903680 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,inframe_deletion
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GGAG=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      ...more
                      HGVS:
                      11.

                      rs1425566545 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:31091300 (GRCh38)
                        16:31102621 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:31091299:C:T
                        Gene:
                        VKORC1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,missense_variant
                        HGVS:
                        12.

                        rs1423114055 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:31094572 (GRCh38)
                          16:31105893 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:31094571:C:T
                          Gene:
                          VKORC1 (Varview), LOC124903680 (Varview)
                          Functional Consequence:
                          missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000084/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.
                          14.

                          rs1403454307 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:31091327 (GRCh38)
                            16:31102648 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:31091326:C:T
                            Gene:
                            VKORC1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,synonymous_variant
                            HGVS:
                            16.

                            rs1391461576 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:31094632 (GRCh38)
                              16:31105953 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:31094631:C:T
                              Gene:
                              VKORC1 (Varview), LOC124903680 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
                              HGVS:
                              17.

                              rs1389762752 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                16:31091315 (GRCh38)
                                16:31102636 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:31091314:A:C
                                Gene:
                                VKORC1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                18.

                                rs1389217886 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:31094621 (GRCh38)
                                  16:31105942 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:31094620:G:A
                                  Gene:
                                  VKORC1 (Varview), LOC124903680 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
                                  HGVS:
                                  19.

                                  rs1386462679 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    16:31094683 (GRCh38)
                                    16:31106004 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:31094682:C:G
                                    Gene:
                                    VKORC1 (Varview), LOC124903680 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,missense_variant,downstream_transcript_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=0.000007/1 (GnomAD)
                                    G=0.001132/19 (TOMMO)
                                    ...more
                                    HGVS:
                                    20.

                                    rs1378716618 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      16:31094691 (GRCh38)
                                      16:31106012 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:31094690:G:A,NC_000016.10:31094690:G:C
                                      Gene:
                                      VKORC1 (Varview), LOC124903680 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000085/3 (ALFA)
                                      A=0.000015/4 (TOPMED)
                                      A=0.000029/4 (GnomAD)
                                      C=0.000035/1 (TOMMO)
                                      ...more
                                      HGVS:

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