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Links from Gene

Items: 1 to 20 of 50

1.

rs1469079162 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    Y:9401551 (GRCh38)
    Y:9239160 (GRCh37)
    Canonical SPDI:
    NC_000024.10:9401550:G:T
    Gene:
    TSPY3 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    HGVS:
    2.

    rs1457502683 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      Y:9400101 (GRCh38)
      Y:9237710 (GRCh37)
      Canonical SPDI:
      NC_000024.10:9400100:G:A
      Gene:
      TSPY3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.00007/1 (GnomAD)
      HGVS:
      3.

      rs1448642228 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        Y:9398976 (GRCh38)
        Y:9236585 (GRCh37)
        Canonical SPDI:
        NC_000024.10:9398975:G:T
        Gene:
        TSPY3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.263/239 (KOREAN)
        HGVS:
        4.

        rs1434822698 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          Y:9396816 (GRCh38)
          Y:9234425 (GRCh37)
          Canonical SPDI:
          NC_000024.10:9396815:G:A
          Gene:
          TSPY3 (Varview), FAM197Y6 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1417743460 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            Y:9399661 (GRCh38)
            Y:9237270 (GRCh37)
            Canonical SPDI:
            NC_000024.10:9399660:G:A
            Gene:
            TSPY3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.086/26 (ALFA)
            G=0./0 (GnomAD_exomes)
            HGVS:
            6.

            rs1391463603 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              Y:9399914 (GRCh38)
              Y:9237523 (GRCh37)
              Canonical SPDI:
              NC_000024.10:9399913:G:A
              Gene:
              TSPY3 (Varview)
              Functional Consequence:
              intron_variant
              HGVS:
              7.

              rs1386266421 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                Y:9399921 (GRCh38)
                Y:9237530 (GRCh37)
                Canonical SPDI:
                NC_000024.10:9399920:G:T
                Gene:
                TSPY3 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:
                9.

                rs1369825027 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  Y:9397020 (GRCh38)
                  Y:9234629 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:9397019:C:A
                  Gene:
                  TSPY3 (Varview), FAM197Y6 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.0798/110 (KOREAN)
                  C=0.25/1 (SGDP_PRJ)
                  HGVS:
                  11.

                  rs1359845398 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    Y:9399653 (GRCh38)
                    Y:9237262 (GRCh37)
                    Canonical SPDI:
                    NC_000024.10:9399652:C:G,NC_000024.10:9399652:C:T
                    Gene:
                    TSPY3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0./0 (SGDP_PRJ)
                    HGVS:
                    12.

                    rs1352162650 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      Y:9400033 (GRCh38)
                      Y:9237642 (GRCh37)
                      Canonical SPDI:
                      NC_000024.10:9400032:A:C
                      Gene:
                      TSPY3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.00006/2 (GnomAD_exomes)
                      HGVS:
                      13.

                      rs1350936206 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        Y:9397154 (GRCh38)
                        Y:9234763 (GRCh37)
                        Canonical SPDI:
                        NC_000024.10:9397153:G:C
                        Gene:
                        TSPY3 (Varview), FAM197Y6 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        HGVS:
                        14.

                        rs1319631261 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          Y:9396640 (GRCh38)
                          Y:9234249 (GRCh37)
                          Canonical SPDI:
                          NC_000024.10:9396639:G:T
                          Gene:
                          TSPY3 (Varview), FAM197Y6 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.5/1 (SGDP_PRJ)
                          HGVS:
                          15.

                          rs1308939808 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            Y:9400031 (GRCh38)
                            Y:9237640 (GRCh37)
                            Canonical SPDI:
                            NC_000024.10:9400030:G:T
                            Gene:
                            TSPY3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                            HGVS:
                            16.

                            rs1305003860 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              Y:9397040 (GRCh38)
                              Y:9234649 (GRCh37)
                              Canonical SPDI:
                              NC_000024.10:9397039:T:G
                              Gene:
                              TSPY3 (Varview), FAM197Y6 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              HGVS:
                              17.

                              rs1295365422 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                Y:9399908 (GRCh38)
                                Y:9237517 (GRCh37)
                                Canonical SPDI:
                                NC_000024.10:9399907:A:G
                                Gene:
                                TSPY3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by cluster
                                HGVS:
                                18.

                                rs1291834713 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  Y:9400308 (GRCh38)
                                  Y:9237917 (GRCh37)
                                  Canonical SPDI:
                                  NC_000024.10:9400307:G:A
                                  Gene:
                                  TSPY3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0./0 (SGDP_PRJ)
                                  A=0.0035/4 (KOREAN)
                                  HGVS:
                                  19.

                                  rs1284922374 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    Y:9397165 (GRCh38)
                                    Y:9234774 (GRCh37)
                                    Canonical SPDI:
                                    NC_000024.10:9397164:C:T
                                    Gene:
                                    TSPY3 (Varview), FAM197Y6 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    HGVS:
                                    20.

                                    rs1274579311 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      Y:9396825 (GRCh38)
                                      Y:9234434 (GRCh37)
                                      Canonical SPDI:
                                      NC_000024.10:9396824:G:A
                                      Gene:
                                      TSPY3 (Varview), FAM197Y6 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.1356/192 (KOREAN)
                                      G=0.5/82 (SGDP_PRJ)
                                      HGVS:

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