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Links from Gene

Items: 1 to 20 of 1387

1.

rs1490018929 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:42762552 (GRCh38)
    2:42989692 (GRCh37)
    Canonical SPDI:
    NC_000002.12:42762551:G:A
    Gene:
    OXER1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0./0 (GnomAD)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489369185 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      2:42764419 (GRCh38)
      2:42991559 (GRCh37)
      Canonical SPDI:
      NC_000002.12:42764418:C:A,NC_000002.12:42764418:C:T
      Gene:
      OXER1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.000023/6 (TOPMED)
      A=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1488754759 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:42762148 (GRCh38)
        2:42989288 (GRCh37)
        Canonical SPDI:
        NC_000002.12:42762147:T:C
        Gene:
        OXER1 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_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:
        4.

        rs1487038195 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          2:42764020 (GRCh38)
          2:42991160 (GRCh37)
          Canonical SPDI:
          NC_000002.12:42764019:A:T
          Gene:
          OXER1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487008507 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            2:42763206 (GRCh38)
            2:42990346 (GRCh37)
            Canonical SPDI:
            NC_000002.12:42763205:G:T
            Gene:
            OXER1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1486529326 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:42765785 (GRCh38)
              2:42992925 (GRCh37)
              Canonical SPDI:
              NC_000002.12:42765784:G:A
              Gene:
              OXER1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486027741 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:42763424 (GRCh38)
                2:42990564 (GRCh37)
                Canonical SPDI:
                NC_000002.12:42763423:C:T
                Gene:
                OXER1 (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000005/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1484889922 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:42763714 (GRCh38)
                  2:42990854 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:42763713:C:T
                  Gene:
                  OXER1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1484792137 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:42765168 (GRCh38)
                    2:42992308 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:42765167:C:T
                    Gene:
                    OXER1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1483938004 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:42764727 (GRCh38)
                      2:42991867 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:42764726:G:A
                      Gene:
                      OXER1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1483478694 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        2:42766140 (GRCh38)
                        2:42993280 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:42766139:C:A
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1483049214 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          2:42762876 (GRCh38)
                          2:42990016 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:42762875:C:A,NC_000002.12:42762875:C:T
                          Gene:
                          OXER1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1483019728 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:42763376 (GRCh38)
                            2:42990516 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:42763375:G:A
                            Gene:
                            OXER1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000111/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1482931921 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              2:42766151 (GRCh38)
                              2:42993291 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:42766150:T:G
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1482829449 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                2:42765684 (GRCh38)
                                2:42992824 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:42765683:A:C
                                Gene:
                                OXER1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1480309181 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  2:42762930 (GRCh38)
                                  2:42990070 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:42762929:T:C
                                  Gene:
                                  OXER1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1479968885 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    2:42764651 (GRCh38)
                                    2:42991791 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:42764650:G:T
                                    Gene:
                                    OXER1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1479746040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      2:42763863 (GRCh38)
                                      2:42991003 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:42763862:C:A
                                      Gene:
                                      OXER1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1479357584 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>-,AA [Show Flanks]
                                        Chromosome:
                                        2:42765521 (GRCh38)
                                        2:42992661 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:42765520:AAAAAAA:AAAAAA,NC_000002.12:42765520:AAAAAAA:AAAAAAAA
                                        Gene:
                                        OXER1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAA=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477031794 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          2:42766098 (GRCh38)
                                          2:42993238 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:42766097:G:T
                                          Gene:
                                          OXER1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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