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Items: 1 to 20 of 909

1.

rs1489943483 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    6:167157794 (GRCh38)
    6:167571282 (GRCh37)
    Canonical SPDI:
    NC_000006.12:167157793:A:C,NC_000006.12:167157793:A:G
    Gene:
    GPR31 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000008/2 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1488541901 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:167157783 (GRCh38)
      6:167571271 (GRCh37)
      Canonical SPDI:
      NC_000006.12:167157782:C:T
      Gene:
      GPR31 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1488512629 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        6:167157268 (GRCh38)
        6:167570756 (GRCh37)
        Canonical SPDI:
        NC_000006.12:167157267:G:A,NC_000006.12:167157267:G:C
        Gene:
        GPR31 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000051/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488088548 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:167157109 (GRCh38)
          6:167570597 (GRCh37)
          Canonical SPDI:
          NC_000006.12:167157108:G:A
          Gene:
          GPR31 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487930408 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:167157338 (GRCh38)
            6:167570826 (GRCh37)
            Canonical SPDI:
            NC_000006.12:167157337:A:G
            Gene:
            GPR31 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487290427 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:167159621 (GRCh38)
              6:167573109 (GRCh37)
              Canonical SPDI:
              NC_000006.12:167159620:G:A
              Gene:
              GPR31 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.0002/1 (ALFA)
              A=0.0002/1 (Estonian)
              HGVS:
              7.

              rs1486255796 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                6:167159767 (GRCh38)
                6:167573255 (GRCh37)
                Canonical SPDI:
                NC_000006.12:167159766:A:G,NC_000006.12:167159766:A:T
                Gene:
                GPR31 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1485543467 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:167157725 (GRCh38)
                  6:167571213 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:167157724:A:G
                  Gene:
                  GPR31 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1482362386 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    6:167157293 (GRCh38)
                    6:167570781 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:167157292:G:
                    Gene:
                    GPR31 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,frameshift_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000045/12 (TOPMED)
                    HGVS:
                    10.

                    rs1481855239 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:167159602 (GRCh38)
                      6:167573090 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:167159601:G:A
                      Gene:
                      GPR31 (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=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1480628404 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        6:167156958 (GRCh38)
                        6:167570446 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:167156957:A:T
                        Gene:
                        GPR31 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1480397602 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:167158066 (GRCh38)
                          6:167571554 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:167158065:T:C
                          Gene:
                          GPR31 (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=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1480299319 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            6:167157752 (GRCh38)
                            6:167571240 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:167157751:A:T
                            Gene:
                            GPR31 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000224/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1479117360 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:167157812 (GRCh38)
                              6:167571300 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:167157811:G:A
                              Gene:
                              GPR31 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1479107296 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                6:167156902 (GRCh38)
                                6:167570391 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:167156902:GGGGG:GGGGGG
                                Gene:
                                GPR31 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1479000438 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:167157350 (GRCh38)
                                  6:167570838 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:167157349:C:T
                                  Gene:
                                  GPR31 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1478192060 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:167159719 (GRCh38)
                                    6:167573207 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:167159718:A:G
                                    Gene:
                                    GPR31 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000054/1 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    G=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1478020148 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      6:167157552 (GRCh38)
                                      6:167571040 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:167157551:G:C
                                      Gene:
                                      GPR31 (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:
                                      19.

                                      rs1477557407 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GA>- [Show Flanks]
                                        Chromosome:
                                        6:167156717 (GRCh38)
                                        6:167570205 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:167156715:AGA:A
                                        Gene:
                                        GPR31 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477271108 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:167159641 (GRCh38)
                                          6:167573129 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:167159640:G:A
                                          Gene:
                                          GPR31 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          HGVS:

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