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Links from Gene

Items: 1 to 20 of 65

1.

rs1460734710 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    Y:22314767 (GRCh38)
    Y:24460914 (GRCh37)
    Canonical SPDI:
    NC_000024.10:22314766:C:G
    Gene:
    RBMY2FP (Varview), LOC100652931 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.00003/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1413599185 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      Y:22315476 (GRCh38)
      Y:24461623 (GRCh37)
      Canonical SPDI:
      NC_000024.10:22315475:G:A
      Gene:
      RBMY2FP (Varview), LOC100652931 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
      HGVS:
      3.

      rs1394702232 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        Y:22314757 (GRCh38)
        Y:24460904 (GRCh37)
        Canonical SPDI:
        NC_000024.10:22314756:C:A
        Gene:
        RBMY2FP (Varview), LOC100652931 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.00003/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1388470923 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          Y:22318921 (GRCh38)
          Y:24465068 (GRCh37)
          Canonical SPDI:
          NC_000024.10:22318920:T:C
          Gene:
          LOC100652931 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          5.

          rs1375517320 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            Y:22314782 (GRCh38)
            Y:24460929 (GRCh37)
            Canonical SPDI:
            NC_000024.10:22314781:T:A
            Gene:
            RBMY2FP (Varview), LOC100652931 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.00003/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1362686746 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              Y:22314703 (GRCh38)
              Y:24460850 (GRCh37)
              Canonical SPDI:
              NC_000024.10:22314702:G:T
              Gene:
              RBMY2FP (Varview), LOC100652931 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.00008/3 (GnomAD_exomes)
              HGVS:
              7.

              rs1360169633 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AATAAATAAATA>-,AATA,AATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATA [Show Flanks]
                Chromosome:
                Y:22315711 (GRCh38)
                Y:24461858 (GRCh37)
                Canonical SPDI:
                NC_000024.10:22315686:AATAAATAAATAAATAAATAAATAAATAAATAAATA:AATAAATAAATAAATAAATAAATA,NC_000024.10:22315686:AATAAATAAATAAATAAATAAATAAATAAATAAATA:AATAAATAAATAAATAAATAAATAAATA,NC_000024.10:22315686:AATAAATAAATAAATAAATAAATAAATAAATAAATA:AATAAATAAATAAATAAATAAATAAATAAATA,NC_000024.10:22315686:AATAAATAAATAAATAAATAAATAAATAAATAAATA:AATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000024.10:22315686:AATAAATAAATAAATAAATAAATAAATAAATAAATA:AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000024.10:22315686:AATAAATAAATAAATAAATAAATAAATAAATAAATA:AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA
                Gene:
                RBMY2FP (Varview), LOC100652931 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                Validated:
                by cluster
                HGVS:
                NC_000024.10:g.22315687AATA[6], NC_000024.10:g.22315687AATA[7], NC_000024.10:g.22315687AATA[8], NC_000024.10:g.22315687AATA[10], NC_000024.10:g.22315687AATA[11], NC_000024.10:g.22315687AATA[12], NC_000024.9:g.24461834AATA[6], NC_000024.9:g.24461834AATA[7], NC_000024.9:g.24461834AATA[8], NC_000024.9:g.24461834AATA[10], NC_000024.9:g.24461834AATA[11], NC_000024.9:g.24461834AATA[12], NG_004755.2:g.504801AATA[6], NG_004755.2:g.504801AATA[7], NG_004755.2:g.504801AATA[8], NG_004755.2:g.504801AATA[10], NG_004755.2:g.504801AATA[11], NG_004755.2:g.504801AATA[12], NR_002193.2:n.1524AATA[6], NR_002193.2:n.1524AATA[7], NR_002193.2:n.1524AATA[8], NR_002193.2:n.1524AATA[10], NR_002193.2:n.1524AATA[11], NR_002193.2:n.1524AATA[12], NR_002193.1:n.1526AATA[6], NR_002193.1:n.1526AATA[7], NR_002193.1:n.1526AATA[8], NR_002193.1:n.1526AATA[10], NR_002193.1:n.1526AATA[11], NR_002193.1:n.1526AATA[12], NM_144971.2:c.*922AATA[6], NM_144971.2:c.*922AATA[7], NM_144971.2:c.*922AATA[8], NM_144971.2:c.*922AATA[10], NM_144971.2:c.*922AATA[11], NM_144971.2:c.*922AATA[12], NM_144971.1:c.*922AATA[6], NM_144971.1:c.*922AATA[7], NM_144971.1:c.*922AATA[8], NM_144971.1:c.*922AATA[10], NM_144971.1:c.*922AATA[11], NM_144971.1:c.*922AATA[12]
                8.

                rs1323642772 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TT>- [Show Flanks]
                  Chromosome:
                  Y:22314779 (GRCh38)
                  Y:24460926 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:22314778:TT:
                  Gene:
                  RBMY2FP (Varview), LOC100652931 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.00003/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1319132975 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    Y:22317973 (GRCh38)
                    Y:24464120 (GRCh37)
                    Canonical SPDI:
                    NC_000024.10:22317972:A:C
                    Gene:
                    LOC100652931 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:
                    10.

                    rs1271959434 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      Y:22320581 (GRCh38)
                      Y:24466728 (GRCh37)
                      Canonical SPDI:
                      NC_000024.10:22320580:T:G
                      Gene:
                      LOC100652931 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      HGVS:
                      11.

                      rs1194069542 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        Y:22314931 (GRCh38)
                        Y:24461078 (GRCh37)
                        Canonical SPDI:
                        NC_000024.10:22314930:C:T
                        Gene:
                        RBMY2FP (Varview), LOC100652931 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                        HGVS:
                        12.

                        rs977593951 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          Y:22319162 (GRCh38)
                          Y:24465309 (GRCh37)
                          Canonical SPDI:
                          NC_000024.10:22319161:T:G
                          Gene:
                          LOC100652931 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0./0 (PRJEB36033)
                          T=0./0 (SGDP_PRJ)
                          T=0./0 (Siberian)
                          G=0.0072/10 (KOREAN)
                          HGVS:
                          13.

                          rs936286355 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            Y:22320568 (GRCh38)
                            Y:24466715 (GRCh37)
                            Canonical SPDI:
                            NC_000024.10:22320567:G:A
                            Gene:
                            LOC100652931 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0./0 (PRJEB36033)
                            G=0./0 (SGDP_PRJ)
                            G=0./0 (Siberian)
                            A=0.0014/2 (KOREAN)
                            HGVS:
                            14.

                            rs926071616 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              Y:22320353 (GRCh38)
                              Y:24466500 (GRCh37)
                              Canonical SPDI:
                              NC_000024.10:22320352:A:G
                              Gene:
                              LOC100652931 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.5/1 (Siberian)
                              HGVS:
                              15.

                              rs913691806 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                Y:22318089 (GRCh38)
                                Y:24464236 (GRCh37)
                                Canonical SPDI:
                                NC_000024.10:22318088:C:A
                                Gene:
                                LOC100652931 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.5/1 (Siberian)
                                HGVS:
                                16.

                                rs869244444 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  Y:22315728 (GRCh38)
                                  Y:24461875 (GRCh37)
                                  Canonical SPDI:
                                  NC_000024.10:22315727:C:
                                  Gene:
                                  RBMY2FP (Varview), LOC100652931 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  HGVS:
                                  17.

                                  rs869193780 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TAAATA>- [Show Flanks]
                                    Chromosome:
                                    Y:22315717 (GRCh38)
                                    Y:24461864 (GRCh37)
                                    Canonical SPDI:
                                    NC_000024.10:22315715:ATAAATA:A
                                    Gene:
                                    RBMY2FP (Varview), LOC100652931 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                    HGVS:
                                    18.

                                    rs869141698 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->TA [Show Flanks]
                                      Chromosome:
                                      Y:22315822 (GRCh38)
                                      Y:24461970 (GRCh37)
                                      Canonical SPDI:
                                      NC_000024.10:22315822:TA:TATA
                                      Gene:
                                      RBMY2FP (Varview), LOC100652931 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                      HGVS:
                                      19.

                                      rs781707103 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        Y:22315380 (GRCh38)
                                        Y:24461528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000024.10:22315380:TTTTTT:TTTTTTT
                                        Gene:
                                        RBMY2FP (Varview), LOC100652931 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.00003/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs779441229 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          Y:22320684 (GRCh38)
                                          Y:24466831 (GRCh37)
                                          Canonical SPDI:
                                          NC_000024.10:22320683:C:T
                                          Gene:
                                          LOC100652931 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.0006/1 (1000Genomes)
                                          HGVS:

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