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Items: 1 to 20 of 34727

1.

rs1491578729 has merged into rs199999285 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>-,CACA,CACACA [Show Flanks]
    Chromosome:
    12:120837837 (GRCh38)
    12:121275640 (GRCh37)
    Canonical SPDI:
    NC_000012.12:120837821:ACACACACACACACACA:ACACACACACACACA,NC_000012.12:120837821:ACACACACACACACACA:ACACACACACACACACACA,NC_000012.12:120837821:ACACACACACACACACA:ACACACACACACACACACACA
    Gene:
    SPPL3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ACACACACACACACACACACA=0./0 (ALFA)
    ACAC=0.000019/5 (TOPMED)
    AC=0.000425/7 (TOMMO)
    AC=0.001667/1 (NorthernSweden)
    AC=0.001786/8 (Estonian)
    AC=0.018738/94 (1000Genomes)
    HGVS:
    2.

    rs1491575950 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      12:120862278 (GRCh38)
      12:121300081 (GRCh37)
      Canonical SPDI:
      NC_000012.12:120862277:GT:
      Gene:
      SPPL3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000014/2 (GnomAD)
      -=0.000034/9 (TOPMED)
      HGVS:
      3.

      rs1491559840 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        12:120841427 (GRCh38)
        12:121279230 (GRCh37)
        Canonical SPDI:
        NC_000012.12:120841426:GT:
        Gene:
        SPPL3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491537214 has merged into rs34253596 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          12:120890601 (GRCh38)
          12:121328404 (GRCh37)
          Canonical SPDI:
          NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120890588:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          SPPL3 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAA=0./0 (ALFA)
          -=0.3947/15 (GENOME_DK)
          -=0.4165/2086 (1000Genomes)
          HGVS:
          NC_000012.12:g.120890601_120890610del, NC_000012.12:g.120890602_120890610del, NC_000012.12:g.120890604_120890610del, NC_000012.12:g.120890606_120890610del, NC_000012.12:g.120890607_120890610del, NC_000012.12:g.120890608_120890610del, NC_000012.12:g.120890609_120890610del, NC_000012.12:g.120890610del, NC_000012.12:g.120890610dup, NC_000012.12:g.120890609_120890610dup, NC_000012.12:g.120890608_120890610dup, NC_000012.12:g.120890607_120890610dup, NC_000012.12:g.120890606_120890610dup, NC_000012.12:g.120890605_120890610dup, NC_000012.12:g.120890598_120890610dup, NC_000012.12:g.120890595_120890610dup, NC_000012.12:g.120890610_120890611insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120890589_120890610A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000012.11:g.121328404_121328413del, NC_000012.11:g.121328405_121328413del, NC_000012.11:g.121328407_121328413del, NC_000012.11:g.121328409_121328413del, NC_000012.11:g.121328410_121328413del, NC_000012.11:g.121328411_121328413del, NC_000012.11:g.121328412_121328413del, NC_000012.11:g.121328413del, NC_000012.11:g.121328413dup, NC_000012.11:g.121328412_121328413dup, NC_000012.11:g.121328411_121328413dup, NC_000012.11:g.121328410_121328413dup, NC_000012.11:g.121328409_121328413dup, NC_000012.11:g.121328408_121328413dup, NC_000012.11:g.121328401_121328413dup, NC_000012.11:g.121328398_121328413dup, NC_000012.11:g.121328413_121328414insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.121328392_121328413A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_011537925.3:c.-24057_-24048del, XM_011537925.3:c.-24056_-24048del, XM_011537925.3:c.-24054_-24048del, XM_011537925.3:c.-24052_-24048del, XM_011537925.3:c.-24051_-24048del, XM_011537925.3:c.-24050_-24048del, XM_011537925.3:c.-24049_-24048del, XM_011537925.3:c.-24048del, XM_011537925.3:c.-24048dup, XM_011537925.3:c.-24049_-24048dup, XM_011537925.3:c.-24050_-24048dup, XM_011537925.3:c.-24051_-24048dup, XM_011537925.3:c.-24052_-24048dup, XM_011537925.3:c.-24053_-24048dup, XM_011537925.3:c.-24060_-24048dup, XM_011537925.3:c.-24063_-24048dup, XM_011537925.3:c.-24048_-24047insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011537925.3:c.-24069_-24048T[58]ATTTTTTTTTTTTTTTTTTTTTTTTT[1]
          5.

          rs1491529458 has merged into rs869283065 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            12:120898322 (GRCh38)
            12:121336125 (GRCh37)
            Canonical SPDI:
            NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120898314:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            SPPL3 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000012.12:g.120898322_120898335del, NC_000012.12:g.120898323_120898335del, NC_000012.12:g.120898327_120898335del, NC_000012.12:g.120898328_120898335del, NC_000012.12:g.120898329_120898335del, NC_000012.12:g.120898330_120898335del, NC_000012.12:g.120898331_120898335del, NC_000012.12:g.120898332_120898335del, NC_000012.12:g.120898333_120898335del, NC_000012.12:g.120898334_120898335del, NC_000012.12:g.120898335del, NC_000012.12:g.120898335dup, NC_000012.12:g.120898334_120898335dup, NC_000012.12:g.120898333_120898335dup, NC_000012.12:g.120898332_120898335dup, NC_000012.11:g.121336125_121336138del, NC_000012.11:g.121336126_121336138del, NC_000012.11:g.121336130_121336138del, NC_000012.11:g.121336131_121336138del, NC_000012.11:g.121336132_121336138del, NC_000012.11:g.121336133_121336138del, NC_000012.11:g.121336134_121336138del, NC_000012.11:g.121336135_121336138del, NC_000012.11:g.121336136_121336138del, NC_000012.11:g.121336137_121336138del, NC_000012.11:g.121336138del, NC_000012.11:g.121336138dup, NC_000012.11:g.121336137_121336138dup, NC_000012.11:g.121336136_121336138dup, NC_000012.11:g.121336135_121336138dup, XM_011537925.3:c.-31787_-31774del, XM_011537925.3:c.-31786_-31774del, XM_011537925.3:c.-31782_-31774del, XM_011537925.3:c.-31781_-31774del, XM_011537925.3:c.-31780_-31774del, XM_011537925.3:c.-31779_-31774del, XM_011537925.3:c.-31778_-31774del, XM_011537925.3:c.-31777_-31774del, XM_011537925.3:c.-31776_-31774del, XM_011537925.3:c.-31775_-31774del, XM_011537925.3:c.-31774del, XM_011537925.3:c.-31774dup, XM_011537925.3:c.-31775_-31774dup, XM_011537925.3:c.-31776_-31774dup, XM_011537925.3:c.-31777_-31774dup
            6.

            rs1491526833 has merged into rs886917805 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>-,T,TTT [Show Flanks]
              Chromosome:
              12:120886164 (GRCh38)
              12:121323967 (GRCh37)
              Canonical SPDI:
              NC_000012.12:120886156:TTTTTTTTT:TTTTTTT,NC_000012.12:120886156:TTTTTTTTT:TTTTTTTT,NC_000012.12:120886156:TTTTTTTTT:TTTTTTTTTT
              Gene:
              SPPL3 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTT=0./0 (ALFA)
              T=0.00053/9 (TOMMO)
              HGVS:
              7.

              rs1491523431 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                12:120794045 (GRCh38)
                12:121231849 (GRCh37)
                Canonical SPDI:
                NC_000012.12:120794045:A:AA
                Gene:
                SPPL3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AA=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1491519901 has merged into rs11341939 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  12:120826300 (GRCh38)
                  12:121264103 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  SPPL3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAA=0./0 (ALFA)
                  AA=0.3634/1820 (1000Genomes)
                  HGVS:
                  NC_000012.12:g.120826300_120826311del, NC_000012.12:g.120826303_120826311del, NC_000012.12:g.120826304_120826311del, NC_000012.12:g.120826305_120826311del, NC_000012.12:g.120826306_120826311del, NC_000012.12:g.120826307_120826311del, NC_000012.12:g.120826308_120826311del, NC_000012.12:g.120826309_120826311del, NC_000012.12:g.120826310_120826311del, NC_000012.12:g.120826311del, NC_000012.12:g.120826311dup, NC_000012.12:g.120826310_120826311dup, NC_000012.12:g.120826309_120826311dup, NC_000012.11:g.121264103_121264114del, NC_000012.11:g.121264106_121264114del, NC_000012.11:g.121264107_121264114del, NC_000012.11:g.121264108_121264114del, NC_000012.11:g.121264109_121264114del, NC_000012.11:g.121264110_121264114del, NC_000012.11:g.121264111_121264114del, NC_000012.11:g.121264112_121264114del, NC_000012.11:g.121264113_121264114del, NC_000012.11:g.121264114del, NC_000012.11:g.121264114dup, NC_000012.11:g.121264113_121264114dup, NC_000012.11:g.121264112_121264114dup
                  9.

                  rs1491514628 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    12:120890588 (GRCh38)
                    12:121328391 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:120890587:CA:
                    Gene:
                    SPPL3 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.00927/110 (ALFA)
                    -=0.0005/30 (GnomAD)
                    -=0.00403/67 (TOMMO)
                    HGVS:
                    10.

                    rs1491508800 has merged into rs34937059 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTGTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      12:120863817 (GRCh38)
                      12:121301620 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTGTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120863805:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      SPPL3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                      HGVS:
                      NC_000012.12:g.120863817_120863821del, NC_000012.12:g.120863818_120863821del, NC_000012.12:g.120863819_120863821del, NC_000012.12:g.120863820_120863821del, NC_000012.12:g.120863821del, NC_000012.12:g.120863821dup, NC_000012.12:g.120863820_120863821dup, NC_000012.12:g.120863806_120863821T[18]GTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.120863806_120863821T[21]GCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.121301620_121301624del, NC_000012.11:g.121301621_121301624del, NC_000012.11:g.121301622_121301624del, NC_000012.11:g.121301623_121301624del, NC_000012.11:g.121301624del, NC_000012.11:g.121301624dup, NC_000012.11:g.121301623_121301624dup, NC_000012.11:g.121301609_121301624T[18]GTAGCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.121301609_121301624T[21]GCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
                      11.

                      rs1491505781 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TATATTT [Show Flanks]
                        Chromosome:
                        12:120852853 (GRCh38)
                        12:121290657 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:120852853::TATATTT
                        Gene:
                        SPPL3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TATATTT=0.001572/7 (ALFA)
                        TATATTT=0.000105/14 (GnomAD)
                        HGVS:
                        12.

                        rs1491497693 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AG>- [Show Flanks]
                          Chromosome:
                          12:120830579 (GRCh38)
                          12:121268382 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:120830578:AG:
                          Gene:
                          SPPL3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.00004/1 (TOMMO)
                          -=0.00721/195 (GnomAD)
                          -=0.00806/3 (NorthernSweden)
                          HGVS:
                          13.

                          rs1491496638 has merged into rs3078036 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
                            Chromosome:
                            12:120763882 (GRCh38)
                            12:121201685 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:120763873:AAAAAAAAAAA:AAAAAAAA,NC_000012.12:120763873:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:120763873:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:120763873:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:120763873:AAAAAAAAAAA:AAAAAAAAAAAAA
                            Gene:
                            SPPL3 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAA=0./0 (ALFA)
                            AA=0.2543/853 (1000Genomes)
                            AA=0.4725/1821 (ALSPAC)
                            HGVS:
                            NC_000012.12:g.120763882_120763884del, NC_000012.12:g.120763883_120763884del, NC_000012.12:g.120763884del, NC_000012.12:g.120763884dup, NC_000012.12:g.120763883_120763884dup, NC_000012.11:g.121201685_121201687del, NC_000012.11:g.121201686_121201687del, NC_000012.11:g.121201687del, NC_000012.11:g.121201687dup, NC_000012.11:g.121201686_121201687dup, NM_139015.5:c.*1123_*1125del, NM_139015.5:c.*1124_*1125del, NM_139015.5:c.*1125del, NM_139015.5:c.*1125dup, NM_139015.5:c.*1124_*1125dup, NM_139015.4:c.*1123_*1125del, NM_139015.4:c.*1124_*1125del, NM_139015.4:c.*1125del, NM_139015.4:c.*1125dup, NM_139015.4:c.*1124_*1125dup, XM_011537925.3:c.*1123_*1125del, XM_011537925.3:c.*1124_*1125del, XM_011537925.3:c.*1125del, XM_011537925.3:c.*1125dup, XM_011537925.3:c.*1124_*1125dup, XM_011537925.2:c.*1123_*1125del, XM_011537925.2:c.*1124_*1125del, XM_011537925.2:c.*1125del, XM_011537925.2:c.*1125dup, XM_011537925.2:c.*1124_*1125dup, XM_011537925.1:c.*1123_*1125del, XM_011537925.1:c.*1124_*1125del, XM_011537925.1:c.*1125del, XM_011537925.1:c.*1125dup, XM_011537925.1:c.*1124_*1125dup
                            14.

                            rs1491487420 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TT>- [Show Flanks]
                              Chromosome:
                              12:120879815 (GRCh38)
                              12:121317618 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:120879814:TT:
                              Gene:
                              SPPL3 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.000071/1 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1491483617 has merged into rs11413210 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                12:120850509 (GRCh38)
                                12:121288312 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:120850492:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                SPPL3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                                AA=0.0521/261 (1000Genomes)
                                HGVS:
                                NC_000012.12:g.120850509_120850513del, NC_000012.12:g.120850510_120850513del, NC_000012.12:g.120850511_120850513del, NC_000012.12:g.120850512_120850513del, NC_000012.12:g.120850513del, NC_000012.12:g.120850513dup, NC_000012.12:g.120850512_120850513dup, NC_000012.12:g.120850511_120850513dup, NC_000012.12:g.120850510_120850513dup, NC_000012.12:g.120850509_120850513dup, NC_000012.12:g.120850508_120850513dup, NC_000012.12:g.120850507_120850513dup, NC_000012.12:g.120850506_120850513dup, NC_000012.12:g.120850505_120850513dup, NC_000012.12:g.120850504_120850513dup, NC_000012.12:g.120850503_120850513dup, NC_000012.12:g.120850501_120850513dup, NC_000012.12:g.120850500_120850513dup, NC_000012.12:g.120850498_120850513dup, NC_000012.12:g.120850495_120850513dup, NC_000012.12:g.120850513_120850514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120850513_120850514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.120850513_120850514insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.121288312_121288316del, NC_000012.11:g.121288313_121288316del, NC_000012.11:g.121288314_121288316del, NC_000012.11:g.121288315_121288316del, NC_000012.11:g.121288316del, NC_000012.11:g.121288316dup, NC_000012.11:g.121288315_121288316dup, NC_000012.11:g.121288314_121288316dup, NC_000012.11:g.121288313_121288316dup, NC_000012.11:g.121288312_121288316dup, NC_000012.11:g.121288311_121288316dup, NC_000012.11:g.121288310_121288316dup, NC_000012.11:g.121288309_121288316dup, NC_000012.11:g.121288308_121288316dup, NC_000012.11:g.121288307_121288316dup, NC_000012.11:g.121288306_121288316dup, NC_000012.11:g.121288304_121288316dup, NC_000012.11:g.121288303_121288316dup, NC_000012.11:g.121288301_121288316dup, NC_000012.11:g.121288298_121288316dup, NC_000012.11:g.121288316_121288317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.121288316_121288317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.121288316_121288317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                16.

                                rs1491464519 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  12:120871754 (GRCh38)
                                  12:121309557 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:120871753:AG:
                                  Gene:
                                  SPPL3 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1491462310 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->G,GG,GTG,GTTTG,GTTTTG [Show Flanks]
                                    Chromosome:
                                    12:120781556 (GRCh38)
                                    12:121219360 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:120781556::G,NC_000012.12:120781556::GG,NC_000012.12:120781556::GTG,NC_000012.12:120781556::GTTTG,NC_000012.12:120781556::GTTTTG
                                    Gene:
                                    SPPL3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GTG=0./0 (ALFA)
                                    GG=0.000004/1 (TOPMED)
                                    G=0.000735/9 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491460001 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      12:120852854 (GRCh38)
                                      12:121290657 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:120852852:ACA:A
                                      Gene:
                                      SPPL3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491453418 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        12:120850492 (GRCh38)
                                        12:121288295 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:120850491:TA:
                                        Gene:
                                        SPPL3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.00007/1 (TOMMO)
                                        -=0.00013/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491446267 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TA>- [Show Flanks]
                                          Chromosome:
                                          12:120898314 (GRCh38)
                                          12:121336117 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:120898313:TA:
                                          Gene:
                                          SPPL3 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.00126/15 (ALFA)
                                          -=0.00116/106 (GnomAD)
                                          HGVS:

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