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Links from Nucleotide

Items: 1 to 20 of 104

1.

rs1486339829 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:65789428 (GRCh38)
    11:65556899 (GRCh37)
    Canonical SPDI:
    NC_000011.10:65789427:G:A
    Gene:
    OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000011/3 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1464687245 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:65789282 (GRCh38)
      11:65556753 (GRCh37)
      Canonical SPDI:
      NC_000011.10:65789281:G:A
      Gene:
      OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000034/9 (TOPMED)
      A=0.00005/7 (GnomAD)
      HGVS:
      3.

      rs1458390273 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:65789063 (GRCh38)
        11:65556534 (GRCh37)
        Canonical SPDI:
        NC_000011.10:65789062:G:A
        Gene:
        OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1456449214 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:65789246 (GRCh38)
          11:65556717 (GRCh37)
          Canonical SPDI:
          NC_000011.10:65789245:G:A
          Gene:
          OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1450073123 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:65789117 (GRCh38)
            11:65556588 (GRCh37)
            Canonical SPDI:
            NC_000011.10:65789116:A:G
            Gene:
            OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1435370580 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              11:65789366 (GRCh38)
              11:65556837 (GRCh37)
              Canonical SPDI:
              NC_000011.10:65789365:G:T
              Gene:
              OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1420917143 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:65789131 (GRCh38)
                11:65556602 (GRCh37)
                Canonical SPDI:
                NC_000011.10:65789130:A:G
                Gene:
                OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1411438900 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:65789120 (GRCh38)
                  11:65556591 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:65789119:A:G
                  Gene:
                  OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1406734731 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:65789269 (GRCh38)
                    11:65556740 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:65789268:C:T
                    Gene:
                    OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1400746139 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:65790815 (GRCh38)
                      11:65558286 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:65790814:G:A
                      Gene:
                      OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1400411712 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:65789350 (GRCh38)
                        11:65556821 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:65789349:C:T
                        Gene:
                        OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00004/1 (TOMMO)
                        HGVS:
                        12.

                        rs1396988171 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTGGCGGGAGT>- [Show Flanks]
                          Chromosome:
                          11:65789371 (GRCh38)
                          11:65556842 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:65789368:GTGTGGCGGGAGT:GT
                          Gene:
                          OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GT=0./0 (ALFA)
                          -=0.000015/4 (TOPMED)
                          -=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1392553458 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            11:65789052 (GRCh38)
                            11:65556523 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:65789051:A:T
                            Gene:
                            OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1387983644 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:65789060 (GRCh38)
                              11:65556531 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:65789059:G:A
                              Gene:
                              OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1387272168 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:65789236 (GRCh38)
                                11:65556707 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:65789235:A:G
                                Gene:
                                OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.00003/8 (TOPMED)
                                HGVS:
                                16.

                                rs1384134317 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  11:65789350 (GRCh38)
                                  11:65556822 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:65789350:T:TT
                                  Gene:
                                  OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TT=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1373174460 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:65789241 (GRCh38)
                                    11:65556712 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:65789240:C:T
                                    Gene:
                                    OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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.

                                    rs1370682975 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:65790768 (GRCh38)
                                      11:65558239 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:65790767:C:T
                                      Gene:
                                      OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1366018498 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:65789242 (GRCh38)
                                        11:65556713 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:65789241:A:G
                                        Gene:
                                        OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000495/8 (TOMMO)
                                        G=0.000546/1 (Korea1K)
                                        G=0.001027/3 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1359061712 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->G [Show Flanks]
                                          Chromosome:
                                          11:65790867 (GRCh38)
                                          11:65558339 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:65790867:GGG:GGGG
                                          Gene:
                                          OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGGG=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:

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