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Links from Gene

Items: 1 to 20 of 1094

1.

rs1490507037 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:57457925 (GRCh38)
    19:57969293 (GRCh37)
    Canonical SPDI:
    NC_000019.10:57457924:G:A
    Gene:
    VN1R1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.00004/3 (GnomAD)
    HGVS:
    2.

    rs1490149044 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:57457757 (GRCh38)
      19:57969125 (GRCh37)
      Canonical SPDI:
      NC_000019.10:57457756:C:T
      Gene:
      VN1R1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000015/4 (TOPMED)
      T=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490143975 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:57455683 (GRCh38)
        19:57967051 (GRCh37)
        Canonical SPDI:
        NC_000019.10:57455682:T:C
        Gene:
        VN1R1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1484952993 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          19:57456115 (GRCh38)
          19:57967483 (GRCh37)
          Canonical SPDI:
          NC_000019.10:57456114:G:C
          Gene:
          VN1R1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000054/1 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000014/2 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1484437035 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:57456619 (GRCh38)
            19:57967987 (GRCh37)
            Canonical SPDI:
            NC_000019.10:57456618:A:G
            Gene:
            VN1R1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1484283157 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->AAAAAAA [Show Flanks]
              Chromosome:
              19:57458521 (GRCh38)
              19:57969890 (GRCh37)
              Canonical SPDI:
              NC_000019.10:57458521::AAAAAAA
              Gene:
              VN1R1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              AAAAAAA=0.00002/2 (GnomAD)
              HGVS:
              7.

              rs1484209414 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:57455828 (GRCh38)
                19:57967196 (GRCh37)
                Canonical SPDI:
                NC_000019.10:57455827:T:C
                Gene:
                VN1R1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1483981166 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  19:57455525 (GRCh38)
                  19:57966893 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:57455524:C:G
                  Gene:
                  VN1R1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1483781096 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    19:57458369 (GRCh38)
                    19:57969737 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:57458368:C:A,NC_000019.10:57458368:C:T
                    Gene:
                    VN1R1 (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:
                    10.

                    rs1482953756 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TA>- [Show Flanks]
                      Chromosome:
                      19:57457971 (GRCh38)
                      19:57969339 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:57457970:TA:
                      Gene:
                      VN1R1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      -=0.00047/6 (TOMMO)
                      HGVS:
                      11.

                      rs1482154002 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        19:57457905 (GRCh38)
                        19:57969273 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:57457904:C:G
                        Gene:
                        VN1R1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1482074603 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:57457549 (GRCh38)
                          19:57968917 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:57457548:A:G
                          Gene:
                          VN1R1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_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.

                          rs1481917907 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            19:57455754 (GRCh38)
                            19:57967122 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:57455753:A:C
                            Gene:
                            VN1R1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.0001/1 (ALFA)
                            HGVS:
                            14.

                            rs1481705468 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:57457398 (GRCh38)
                              19:57968766 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:57457397:A:G
                              Gene:
                              VN1R1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1481675669 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TACGC [Show Flanks]
                                Chromosome:
                                19:57458251 (GRCh38)
                                19:57969620 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:57458251:GC:GCTACGC
                                Gene:
                                VN1R1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GCTACGC=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1481130986 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:57455412 (GRCh38)
                                  19:57966780 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:57455411:G:A
                                  Gene:
                                  VN1R1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1480470983 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:57457821 (GRCh38)
                                    19:57969189 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:57457820:G:A
                                    Gene:
                                    VN1R1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000044/6 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480116479 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:57458261 (GRCh38)
                                      19:57969629 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:57458260:G:A
                                      Gene:
                                      VN1R1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480086289 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:57457528 (GRCh38)
                                        19:57968896 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:57457527:G:A
                                        Gene:
                                        VN1R1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1479768017 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          19:57456581 (GRCh38)
                                          19:57967949 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:57456580:G:C
                                          Gene:
                                          VN1R1 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:

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