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1.

rs1491546381 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    10:70863311 (GRCh38)
    10:72623068 (GRCh37)
    Canonical SPDI:
    NC_000010.11:70863310:TA:
    Gene:
    SGPL1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000084/1 (ALFA)
    -=0.000032/4 (GnomAD)
    -=0.000072/2 (TOMMO)
    HGVS:

    2.

    rs1491545281 has merged into rs139852875 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
      Chromosome:
      10:70823577 (GRCh38)
      10:72583333 (GRCh37)
      Canonical SPDI:
      NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70823563:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      SGPL1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAA=0./0 (ALFA)
      A=0.2344/1174 (1000Genomes)
      -=0.4722/17 (GENOME_DK)
      HGVS:

      3.

      rs1491535341 has merged into rs1423891772 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>-,AA [Show Flanks]
        Chromosome:
        10:70863312 (GRCh38)
        10:72623069 (GRCh37)
        Canonical SPDI:
        NC_000010.11:70863311:AA:A,NC_000010.11:70863311:AA:AAA
        Gene:
        SGPL1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAA=0./0 (ALFA)
        -=0.00359/23 (1000Genomes)
        HGVS:

        4.

        rs1491506983 has merged into rs33942248 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          10:70824981 (GRCh38)
          10:72584737 (GRCh37)
          Canonical SPDI:
          NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:70824968:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SGPL1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          HGVS:

          5.

          rs1491476086 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            10:70877809 (GRCh38)
            10:72637567 (GRCh37)
            Canonical SPDI:
            NC_000010.11:70877809::C
            Gene:
            SGPL1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:

            6.

            rs1491413521 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GT,GTGTGT [Show Flanks]
              Chromosome:
              10:70852698 (GRCh38)
              10:72612456 (GRCh37)
              Canonical SPDI:
              NC_000010.11:70852698:TGTGTGT:TGTGTGTGT,NC_000010.11:70852698:TGTGTGT:TGTGTGTGTGTGT
              Gene:
              SGPL1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTGTGTGTGTGT=0./0 (ALFA)
              HGVS:

              7.

              rs1491393912 has merged into rs34643236 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                10:70879391 (GRCh38)
                10:72639148 (GRCh37)
                Canonical SPDI:
                NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:70879379:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                Gene:
                SGPL1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGTGT=0./0 (ALFA)
                TG=0.0033/2 (NorthernSweden)
                TG=0.0573/287 (1000Genomes)
                -=0.0869/335 (ALSPAC)
                HGVS:
                NC_000010.11:g.70879381GT[5], NC_000010.11:g.70879381GT[6], NC_000010.11:g.70879381GT[7], NC_000010.11:g.70879381GT[8], NC_000010.11:g.70879381GT[9], NC_000010.11:g.70879381GT[10], NC_000010.11:g.70879381GT[11], NC_000010.11:g.70879381GT[13], NC_000010.11:g.70879381GT[14], NC_000010.11:g.70879381GT[15], NC_000010.11:g.70879381GT[16], NC_000010.10:g.72639138GT[5], NC_000010.10:g.72639138GT[6], NC_000010.10:g.72639138GT[7], NC_000010.10:g.72639138GT[8], NC_000010.10:g.72639138GT[9], NC_000010.10:g.72639138GT[10], NC_000010.10:g.72639138GT[11], NC_000010.10:g.72639138GT[13], NC_000010.10:g.72639138GT[14], NC_000010.10:g.72639138GT[15], NC_000010.10:g.72639138GT[16], NM_003901.4:c.*2046GT[5], NM_003901.4:c.*2046GT[6], NM_003901.4:c.*2046GT[7], NM_003901.4:c.*2046GT[8], NM_003901.4:c.*2046GT[9], NM_003901.4:c.*2046GT[10], NM_003901.4:c.*2046GT[11], NM_003901.4:c.*2046GT[13], NM_003901.4:c.*2046GT[14], NM_003901.4:c.*2046GT[15], NM_003901.4:c.*2046GT[16], NM_003901.3:c.*2046GT[5], NM_003901.3:c.*2046GT[6], NM_003901.3:c.*2046GT[7], NM_003901.3:c.*2046GT[8], NM_003901.3:c.*2046GT[9], NM_003901.3:c.*2046GT[10], NM_003901.3:c.*2046GT[11], NM_003901.3:c.*2046GT[13], NM_003901.3:c.*2046GT[14], NM_003901.3:c.*2046GT[15], NM_003901.3:c.*2046GT[16], XM_011540316.3:c.*2046GT[5], XM_011540316.3:c.*2046GT[6], XM_011540316.3:c.*2046GT[7], XM_011540316.3:c.*2046GT[8], XM_011540316.3:c.*2046GT[9], XM_011540316.3:c.*2046GT[10], XM_011540316.3:c.*2046GT[11], XM_011540316.3:c.*2046GT[13], XM_011540316.3:c.*2046GT[14], XM_011540316.3:c.*2046GT[15], XM_011540316.3:c.*2046GT[16], XM_011540316.2:c.*2046GT[5], XM_011540316.2:c.*2046GT[6], XM_011540316.2:c.*2046GT[7], XM_011540316.2:c.*2046GT[8], XM_011540316.2:c.*2046GT[9], XM_011540316.2:c.*2046GT[10], XM_011540316.2:c.*2046GT[11], XM_011540316.2:c.*2046GT[13], XM_011540316.2:c.*2046GT[14], XM_011540316.2:c.*2046GT[15], XM_011540316.2:c.*2046GT[16], XM_011540316.1:c.*2046GT[5], XM_011540316.1:c.*2046GT[6], XM_011540316.1:c.*2046GT[7], XM_011540316.1:c.*2046GT[8], XM_011540316.1:c.*2046GT[9], XM_011540316.1:c.*2046GT[10], XM_011540316.1:c.*2046GT[11], XM_011540316.1:c.*2046GT[13], XM_011540316.1:c.*2046GT[14], XM_011540316.1:c.*2046GT[15], XM_011540316.1:c.*2046GT[16], XM_005270263.2:c.*2046GT[5], XM_005270263.2:c.*2046GT[6], XM_005270263.2:c.*2046GT[7], XM_005270263.2:c.*2046GT[8], XM_005270263.2:c.*2046GT[9], XM_005270263.2:c.*2046GT[10], XM_005270263.2:c.*2046GT[11], XM_005270263.2:c.*2046GT[13], XM_005270263.2:c.*2046GT[14], XM_005270263.2:c.*2046GT[15], XM_005270263.2:c.*2046GT[16], XM_005270263.1:c.*2046GT[5], XM_005270263.1:c.*2046GT[6], XM_005270263.1:c.*2046GT[7], XM_005270263.1:c.*2046GT[8], XM_005270263.1:c.*2046GT[9], XM_005270263.1:c.*2046GT[10], XM_005270263.1:c.*2046GT[11], XM_005270263.1:c.*2046GT[13], XM_005270263.1:c.*2046GT[14], XM_005270263.1:c.*2046GT[15], XM_005270263.1:c.*2046GT[16], XM_011540317.2:c.*2046GT[5], XM_011540317.2:c.*2046GT[6], XM_011540317.2:c.*2046GT[7], XM_011540317.2:c.*2046GT[8], XM_011540317.2:c.*2046GT[9], XM_011540317.2:c.*2046GT[10], XM_011540317.2:c.*2046GT[11], XM_011540317.2:c.*2046GT[13], XM_011540317.2:c.*2046GT[14], XM_011540317.2:c.*2046GT[15], XM_011540317.2:c.*2046GT[16], XM_011540317.1:c.*2046GT[5], XM_011540317.1:c.*2046GT[6], XM_011540317.1:c.*2046GT[7], XM_011540317.1:c.*2046GT[8], XM_011540317.1:c.*2046GT[9], XM_011540317.1:c.*2046GT[10], XM_011540317.1:c.*2046GT[11], XM_011540317.1:c.*2046GT[13], XM_011540317.1:c.*2046GT[14], XM_011540317.1:c.*2046GT[15], XM_011540317.1:c.*2046GT[16], XM_011540318.2:c.*2046GT[5], XM_011540318.2:c.*2046GT[6], XM_011540318.2:c.*2046GT[7], XM_011540318.2:c.*2046GT[8], XM_011540318.2:c.*2046GT[9], XM_011540318.2:c.*2046GT[10], XM_011540318.2:c.*2046GT[11], XM_011540318.2:c.*2046GT[13], XM_011540318.2:c.*2046GT[14], XM_011540318.2:c.*2046GT[15], XM_011540318.2:c.*2046GT[16], XM_011540318.1:c.*2046GT[5], XM_011540318.1:c.*2046GT[6], XM_011540318.1:c.*2046GT[7], XM_011540318.1:c.*2046GT[8], XM_011540318.1:c.*2046GT[9], XM_011540318.1:c.*2046GT[10], XM_011540318.1:c.*2046GT[11], XM_011540318.1:c.*2046GT[13], XM_011540318.1:c.*2046GT[14], XM_011540318.1:c.*2046GT[15], XM_011540318.1:c.*2046GT[16], XM_047425981.1:c.*2046GT[5], XM_047425981.1:c.*2046GT[6], XM_047425981.1:c.*2046GT[7], XM_047425981.1:c.*2046GT[8], XM_047425981.1:c.*2046GT[9], XM_047425981.1:c.*2046GT[10], XM_047425981.1:c.*2046GT[11], XM_047425981.1:c.*2046GT[13], XM_047425981.1:c.*2046GT[14], XM_047425981.1:c.*2046GT[15], XM_047425981.1:c.*2046GT[16]

                8.

                rs1491351429 has merged into rs55860254 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  10:70848464 (GRCh38)
                  10:72608221 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70848454:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  SGPL1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTT=0./0 (ALFA)
                  TTTTTTTTTTTT=0./0 (GENOME_DK)
                  HGVS:
                  NC_000010.11:g.70848464_70848482del, NC_000010.11:g.70848465_70848482del, NC_000010.11:g.70848467_70848482del, NC_000010.11:g.70848468_70848482del, NC_000010.11:g.70848469_70848482del, NC_000010.11:g.70848470_70848482del, NC_000010.11:g.70848471_70848482del, NC_000010.11:g.70848472_70848482del, NC_000010.11:g.70848473_70848482del, NC_000010.11:g.70848474_70848482del, NC_000010.11:g.70848475_70848482del, NC_000010.11:g.70848476_70848482del, NC_000010.11:g.70848477_70848482del, NC_000010.11:g.70848479_70848482del, NC_000010.11:g.70848480_70848482del, NC_000010.11:g.70848481_70848482del, NC_000010.11:g.70848482del, NC_000010.11:g.70848482dup, NC_000010.11:g.70848481_70848482dup, NC_000010.11:g.70848480_70848482dup, NC_000010.11:g.70848479_70848482dup, NC_000010.11:g.70848478_70848482dup, NC_000010.11:g.70848477_70848482dup, NC_000010.11:g.70848476_70848482dup, NC_000010.11:g.70848475_70848482dup, NC_000010.11:g.70848474_70848482dup, NC_000010.11:g.70848473_70848482dup, NC_000010.11:g.70848471_70848482dup, NC_000010.11:g.70848469_70848482dup, NC_000010.11:g.70848468_70848482dup, NC_000010.11:g.70848467_70848482dup, NC_000010.11:g.70848465_70848482dup, NC_000010.11:g.70848464_70848482dup, NC_000010.11:g.70848459_70848482dup, NC_000010.11:g.70848457_70848482dup, NC_000010.11:g.70848456_70848482dup, NC_000010.11:g.70848482_70848483insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.70848482_70848483insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.72608221_72608239del, NC_000010.10:g.72608222_72608239del, NC_000010.10:g.72608224_72608239del, NC_000010.10:g.72608225_72608239del, NC_000010.10:g.72608226_72608239del, NC_000010.10:g.72608227_72608239del, NC_000010.10:g.72608228_72608239del, NC_000010.10:g.72608229_72608239del, NC_000010.10:g.72608230_72608239del, NC_000010.10:g.72608231_72608239del, NC_000010.10:g.72608232_72608239del, NC_000010.10:g.72608233_72608239del, NC_000010.10:g.72608234_72608239del, NC_000010.10:g.72608236_72608239del, NC_000010.10:g.72608237_72608239del, NC_000010.10:g.72608238_72608239del, NC_000010.10:g.72608239del, NC_000010.10:g.72608239dup, NC_000010.10:g.72608238_72608239dup, NC_000010.10:g.72608237_72608239dup, NC_000010.10:g.72608236_72608239dup, NC_000010.10:g.72608235_72608239dup, NC_000010.10:g.72608234_72608239dup, NC_000010.10:g.72608233_72608239dup, NC_000010.10:g.72608232_72608239dup, NC_000010.10:g.72608231_72608239dup, NC_000010.10:g.72608230_72608239dup, NC_000010.10:g.72608228_72608239dup, NC_000010.10:g.72608226_72608239dup, NC_000010.10:g.72608225_72608239dup, NC_000010.10:g.72608224_72608239dup, NC_000010.10:g.72608222_72608239dup, NC_000010.10:g.72608221_72608239dup, NC_000010.10:g.72608216_72608239dup, NC_000010.10:g.72608214_72608239dup, NC_000010.10:g.72608213_72608239dup, NC_000010.10:g.72608239_72608240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.72608239_72608240insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                  9.

                  rs1491344373 has merged into rs1214511097 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    10:70877820 (GRCh38)
                    10:72637577 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70877808:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    SGPL1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTT=0./0 (ALFA)
                    HGVS:
                    NC_000010.11:g.70877820_70877832del, NC_000010.11:g.70877821_70877832del, NC_000010.11:g.70877822_70877832del, NC_000010.11:g.70877823_70877832del, NC_000010.11:g.70877824_70877832del, NC_000010.11:g.70877825_70877832del, NC_000010.11:g.70877826_70877832del, NC_000010.11:g.70877827_70877832del, NC_000010.11:g.70877828_70877832del, NC_000010.11:g.70877829_70877832del, NC_000010.11:g.70877830_70877832del, NC_000010.11:g.70877831_70877832del, NC_000010.11:g.70877832del, NC_000010.11:g.70877832dup, NC_000010.11:g.70877831_70877832dup, NC_000010.11:g.70877830_70877832dup, NC_000010.11:g.70877829_70877832dup, NC_000010.11:g.70877828_70877832dup, NC_000010.11:g.70877827_70877832dup, NC_000010.11:g.70877826_70877832dup, NC_000010.11:g.70877825_70877832dup, NC_000010.11:g.70877824_70877832dup, NC_000010.11:g.70877823_70877832dup, NC_000010.11:g.70877822_70877832dup, NC_000010.11:g.70877821_70877832dup, NC_000010.11:g.70877818_70877832dup, NC_000010.11:g.70877832_70877833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.70877832_70877833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.72637577_72637589del, NC_000010.10:g.72637578_72637589del, NC_000010.10:g.72637579_72637589del, NC_000010.10:g.72637580_72637589del, NC_000010.10:g.72637581_72637589del, NC_000010.10:g.72637582_72637589del, NC_000010.10:g.72637583_72637589del, NC_000010.10:g.72637584_72637589del, NC_000010.10:g.72637585_72637589del, NC_000010.10:g.72637586_72637589del, NC_000010.10:g.72637587_72637589del, NC_000010.10:g.72637588_72637589del, NC_000010.10:g.72637589del, NC_000010.10:g.72637589dup, NC_000010.10:g.72637588_72637589dup, NC_000010.10:g.72637587_72637589dup, NC_000010.10:g.72637586_72637589dup, NC_000010.10:g.72637585_72637589dup, NC_000010.10:g.72637584_72637589dup, NC_000010.10:g.72637583_72637589dup, NC_000010.10:g.72637582_72637589dup, NC_000010.10:g.72637581_72637589dup, NC_000010.10:g.72637580_72637589dup, NC_000010.10:g.72637579_72637589dup, NC_000010.10:g.72637578_72637589dup, NC_000010.10:g.72637575_72637589dup, NC_000010.10:g.72637589_72637590insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.72637589_72637590insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_003901.4:c.*485_*497del, NM_003901.4:c.*486_*497del, NM_003901.4:c.*487_*497del, NM_003901.4:c.*488_*497del, NM_003901.4:c.*489_*497del, NM_003901.4:c.*490_*497del, NM_003901.4:c.*491_*497del, NM_003901.4:c.*492_*497del, NM_003901.4:c.*493_*497del, NM_003901.4:c.*494_*497del, NM_003901.4:c.*495_*497del, NM_003901.4:c.*496_*497del, NM_003901.4:c.*497del, NM_003901.4:c.*497dup, NM_003901.4:c.*496_*497dup, NM_003901.4:c.*495_*497dup, NM_003901.4:c.*494_*497dup, NM_003901.4:c.*493_*497dup, NM_003901.4:c.*492_*497dup, NM_003901.4:c.*491_*497dup, NM_003901.4:c.*490_*497dup, NM_003901.4:c.*489_*497dup, NM_003901.4:c.*488_*497dup, NM_003901.4:c.*487_*497dup, NM_003901.4:c.*486_*497dup, NM_003901.4:c.*483_*497dup, NM_003901.4:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_003901.4:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_003901.3:c.*485_*497del, NM_003901.3:c.*486_*497del, NM_003901.3:c.*487_*497del, NM_003901.3:c.*488_*497del, NM_003901.3:c.*489_*497del, NM_003901.3:c.*490_*497del, NM_003901.3:c.*491_*497del, NM_003901.3:c.*492_*497del, NM_003901.3:c.*493_*497del, NM_003901.3:c.*494_*497del, NM_003901.3:c.*495_*497del, NM_003901.3:c.*496_*497del, NM_003901.3:c.*497del, NM_003901.3:c.*497dup, NM_003901.3:c.*496_*497dup, NM_003901.3:c.*495_*497dup, NM_003901.3:c.*494_*497dup, NM_003901.3:c.*493_*497dup, NM_003901.3:c.*492_*497dup, NM_003901.3:c.*491_*497dup, NM_003901.3:c.*490_*497dup, NM_003901.3:c.*489_*497dup, NM_003901.3:c.*488_*497dup, NM_003901.3:c.*487_*497dup, NM_003901.3:c.*486_*497dup, NM_003901.3:c.*483_*497dup, NM_003901.3:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_003901.3:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540316.3:c.*485_*497del, XM_011540316.3:c.*486_*497del, XM_011540316.3:c.*487_*497del, XM_011540316.3:c.*488_*497del, XM_011540316.3:c.*489_*497del, XM_011540316.3:c.*490_*497del, XM_011540316.3:c.*491_*497del, XM_011540316.3:c.*492_*497del, XM_011540316.3:c.*493_*497del, XM_011540316.3:c.*494_*497del, XM_011540316.3:c.*495_*497del, XM_011540316.3:c.*496_*497del, XM_011540316.3:c.*497del, XM_011540316.3:c.*497dup, XM_011540316.3:c.*496_*497dup, XM_011540316.3:c.*495_*497dup, XM_011540316.3:c.*494_*497dup, XM_011540316.3:c.*493_*497dup, XM_011540316.3:c.*492_*497dup, XM_011540316.3:c.*491_*497dup, XM_011540316.3:c.*490_*497dup, XM_011540316.3:c.*489_*497dup, XM_011540316.3:c.*488_*497dup, XM_011540316.3:c.*487_*497dup, XM_011540316.3:c.*486_*497dup, XM_011540316.3:c.*483_*497dup, XM_011540316.3:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540316.3:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540316.2:c.*485_*497del, XM_011540316.2:c.*486_*497del, XM_011540316.2:c.*487_*497del, XM_011540316.2:c.*488_*497del, XM_011540316.2:c.*489_*497del, XM_011540316.2:c.*490_*497del, XM_011540316.2:c.*491_*497del, XM_011540316.2:c.*492_*497del, XM_011540316.2:c.*493_*497del, XM_011540316.2:c.*494_*497del, XM_011540316.2:c.*495_*497del, XM_011540316.2:c.*496_*497del, XM_011540316.2:c.*497del, XM_011540316.2:c.*497dup, XM_011540316.2:c.*496_*497dup, XM_011540316.2:c.*495_*497dup, XM_011540316.2:c.*494_*497dup, XM_011540316.2:c.*493_*497dup, XM_011540316.2:c.*492_*497dup, XM_011540316.2:c.*491_*497dup, XM_011540316.2:c.*490_*497dup, XM_011540316.2:c.*489_*497dup, XM_011540316.2:c.*488_*497dup, XM_011540316.2:c.*487_*497dup, XM_011540316.2:c.*486_*497dup, XM_011540316.2:c.*483_*497dup, XM_011540316.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540316.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540316.1:c.*485_*497del, XM_011540316.1:c.*486_*497del, XM_011540316.1:c.*487_*497del, XM_011540316.1:c.*488_*497del, XM_011540316.1:c.*489_*497del, XM_011540316.1:c.*490_*497del, XM_011540316.1:c.*491_*497del, XM_011540316.1:c.*492_*497del, XM_011540316.1:c.*493_*497del, XM_011540316.1:c.*494_*497del, XM_011540316.1:c.*495_*497del, XM_011540316.1:c.*496_*497del, XM_011540316.1:c.*497del, XM_011540316.1:c.*497dup, XM_011540316.1:c.*496_*497dup, XM_011540316.1:c.*495_*497dup, XM_011540316.1:c.*494_*497dup, XM_011540316.1:c.*493_*497dup, XM_011540316.1:c.*492_*497dup, XM_011540316.1:c.*491_*497dup, XM_011540316.1:c.*490_*497dup, XM_011540316.1:c.*489_*497dup, XM_011540316.1:c.*488_*497dup, XM_011540316.1:c.*487_*497dup, XM_011540316.1:c.*486_*497dup, XM_011540316.1:c.*483_*497dup, XM_011540316.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540316.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005270263.2:c.*485_*497del, XM_005270263.2:c.*486_*497del, XM_005270263.2:c.*487_*497del, XM_005270263.2:c.*488_*497del, XM_005270263.2:c.*489_*497del, XM_005270263.2:c.*490_*497del, XM_005270263.2:c.*491_*497del, XM_005270263.2:c.*492_*497del, XM_005270263.2:c.*493_*497del, XM_005270263.2:c.*494_*497del, XM_005270263.2:c.*495_*497del, XM_005270263.2:c.*496_*497del, XM_005270263.2:c.*497del, XM_005270263.2:c.*497dup, XM_005270263.2:c.*496_*497dup, XM_005270263.2:c.*495_*497dup, XM_005270263.2:c.*494_*497dup, XM_005270263.2:c.*493_*497dup, XM_005270263.2:c.*492_*497dup, XM_005270263.2:c.*491_*497dup, XM_005270263.2:c.*490_*497dup, XM_005270263.2:c.*489_*497dup, XM_005270263.2:c.*488_*497dup, XM_005270263.2:c.*487_*497dup, XM_005270263.2:c.*486_*497dup, XM_005270263.2:c.*483_*497dup, XM_005270263.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005270263.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005270263.1:c.*485_*497del, XM_005270263.1:c.*486_*497del, XM_005270263.1:c.*487_*497del, XM_005270263.1:c.*488_*497del, XM_005270263.1:c.*489_*497del, XM_005270263.1:c.*490_*497del, XM_005270263.1:c.*491_*497del, XM_005270263.1:c.*492_*497del, XM_005270263.1:c.*493_*497del, XM_005270263.1:c.*494_*497del, XM_005270263.1:c.*495_*497del, XM_005270263.1:c.*496_*497del, XM_005270263.1:c.*497del, XM_005270263.1:c.*497dup, XM_005270263.1:c.*496_*497dup, XM_005270263.1:c.*495_*497dup, XM_005270263.1:c.*494_*497dup, XM_005270263.1:c.*493_*497dup, XM_005270263.1:c.*492_*497dup, XM_005270263.1:c.*491_*497dup, XM_005270263.1:c.*490_*497dup, XM_005270263.1:c.*489_*497dup, XM_005270263.1:c.*488_*497dup, XM_005270263.1:c.*487_*497dup, XM_005270263.1:c.*486_*497dup, XM_005270263.1:c.*483_*497dup, XM_005270263.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005270263.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540317.2:c.*485_*497del, XM_011540317.2:c.*486_*497del, XM_011540317.2:c.*487_*497del, XM_011540317.2:c.*488_*497del, XM_011540317.2:c.*489_*497del, XM_011540317.2:c.*490_*497del, XM_011540317.2:c.*491_*497del, XM_011540317.2:c.*492_*497del, XM_011540317.2:c.*493_*497del, XM_011540317.2:c.*494_*497del, XM_011540317.2:c.*495_*497del, XM_011540317.2:c.*496_*497del, XM_011540317.2:c.*497del, XM_011540317.2:c.*497dup, XM_011540317.2:c.*496_*497dup, XM_011540317.2:c.*495_*497dup, XM_011540317.2:c.*494_*497dup, XM_011540317.2:c.*493_*497dup, XM_011540317.2:c.*492_*497dup, XM_011540317.2:c.*491_*497dup, XM_011540317.2:c.*490_*497dup, XM_011540317.2:c.*489_*497dup, XM_011540317.2:c.*488_*497dup, XM_011540317.2:c.*487_*497dup, XM_011540317.2:c.*486_*497dup, XM_011540317.2:c.*483_*497dup, XM_011540317.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540317.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540317.1:c.*485_*497del, XM_011540317.1:c.*486_*497del, XM_011540317.1:c.*487_*497del, XM_011540317.1:c.*488_*497del, XM_011540317.1:c.*489_*497del, XM_011540317.1:c.*490_*497del, XM_011540317.1:c.*491_*497del, XM_011540317.1:c.*492_*497del, XM_011540317.1:c.*493_*497del, XM_011540317.1:c.*494_*497del, XM_011540317.1:c.*495_*497del, XM_011540317.1:c.*496_*497del, XM_011540317.1:c.*497del, XM_011540317.1:c.*497dup, XM_011540317.1:c.*496_*497dup, XM_011540317.1:c.*495_*497dup, XM_011540317.1:c.*494_*497dup, XM_011540317.1:c.*493_*497dup, XM_011540317.1:c.*492_*497dup, XM_011540317.1:c.*491_*497dup, XM_011540317.1:c.*490_*497dup, XM_011540317.1:c.*489_*497dup, XM_011540317.1:c.*488_*497dup, XM_011540317.1:c.*487_*497dup, XM_011540317.1:c.*486_*497dup, XM_011540317.1:c.*483_*497dup, XM_011540317.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540317.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540318.2:c.*485_*497del, XM_011540318.2:c.*486_*497del, XM_011540318.2:c.*487_*497del, XM_011540318.2:c.*488_*497del, XM_011540318.2:c.*489_*497del, XM_011540318.2:c.*490_*497del, XM_011540318.2:c.*491_*497del, XM_011540318.2:c.*492_*497del, XM_011540318.2:c.*493_*497del, XM_011540318.2:c.*494_*497del, XM_011540318.2:c.*495_*497del, XM_011540318.2:c.*496_*497del, XM_011540318.2:c.*497del, XM_011540318.2:c.*497dup, XM_011540318.2:c.*496_*497dup, XM_011540318.2:c.*495_*497dup, XM_011540318.2:c.*494_*497dup, XM_011540318.2:c.*493_*497dup, XM_011540318.2:c.*492_*497dup, XM_011540318.2:c.*491_*497dup, XM_011540318.2:c.*490_*497dup, XM_011540318.2:c.*489_*497dup, XM_011540318.2:c.*488_*497dup, XM_011540318.2:c.*487_*497dup, XM_011540318.2:c.*486_*497dup, XM_011540318.2:c.*483_*497dup, XM_011540318.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540318.2:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540318.1:c.*485_*497del, XM_011540318.1:c.*486_*497del, XM_011540318.1:c.*487_*497del, XM_011540318.1:c.*488_*497del, XM_011540318.1:c.*489_*497del, XM_011540318.1:c.*490_*497del, XM_011540318.1:c.*491_*497del, XM_011540318.1:c.*492_*497del, XM_011540318.1:c.*493_*497del, XM_011540318.1:c.*494_*497del, XM_011540318.1:c.*495_*497del, XM_011540318.1:c.*496_*497del, XM_011540318.1:c.*497del, XM_011540318.1:c.*497dup, XM_011540318.1:c.*496_*497dup, XM_011540318.1:c.*495_*497dup, XM_011540318.1:c.*494_*497dup, XM_011540318.1:c.*493_*497dup, XM_011540318.1:c.*492_*497dup, XM_011540318.1:c.*491_*497dup, XM_011540318.1:c.*490_*497dup, XM_011540318.1:c.*489_*497dup, XM_011540318.1:c.*488_*497dup, XM_011540318.1:c.*487_*497dup, XM_011540318.1:c.*486_*497dup, XM_011540318.1:c.*483_*497dup, XM_011540318.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011540318.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047425981.1:c.*485_*497del, XM_047425981.1:c.*486_*497del, XM_047425981.1:c.*487_*497del, XM_047425981.1:c.*488_*497del, XM_047425981.1:c.*489_*497del, XM_047425981.1:c.*490_*497del, XM_047425981.1:c.*491_*497del, XM_047425981.1:c.*492_*497del, XM_047425981.1:c.*493_*497del, XM_047425981.1:c.*494_*497del, XM_047425981.1:c.*495_*497del, XM_047425981.1:c.*496_*497del, XM_047425981.1:c.*497del, XM_047425981.1:c.*497dup, XM_047425981.1:c.*496_*497dup, XM_047425981.1:c.*495_*497dup, XM_047425981.1:c.*494_*497dup, XM_047425981.1:c.*493_*497dup, XM_047425981.1:c.*492_*497dup, XM_047425981.1:c.*491_*497dup, XM_047425981.1:c.*490_*497dup, XM_047425981.1:c.*489_*497dup, XM_047425981.1:c.*488_*497dup, XM_047425981.1:c.*487_*497dup, XM_047425981.1:c.*486_*497dup, XM_047425981.1:c.*483_*497dup, XM_047425981.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047425981.1:c.*497_*498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                    10.

                    rs1491342078 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GG>- [Show Flanks]
                      Chromosome:
                      10:70815807 (GRCh38)
                      10:72575563 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:70815806:GG:
                      Gene:
                      SGPL1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.000142/2 (ALFA)
                      -=0.000043/6 (GnomAD)
                      -=0.000049/13 (TOPMED)
                      HGVS:

                      11.

                      rs1491325795 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C,G [Show Flanks]
                        Chromosome:
                        10:70824969 (GRCh38)
                        10:72584726 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:70824969::C,NC_000010.11:70824969::G
                        Gene:
                        SGPL1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        C=0.074172/371 (1000Genomes)
                        HGVS:

                        12.

                        rs1491273828 has merged into rs35734922 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          10:70819640 (GRCh38)
                          10:72579396 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70819627:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          SGPL1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTTTT=0./0 (ALFA)
                          -=0.3/12 (GENOME_DK)
                          HGVS:
                          NC_000010.11:g.70819640_70819648del, NC_000010.11:g.70819643_70819648del, NC_000010.11:g.70819644_70819648del, NC_000010.11:g.70819645_70819648del, NC_000010.11:g.70819646_70819648del, NC_000010.11:g.70819647_70819648del, NC_000010.11:g.70819648del, NC_000010.11:g.70819648dup, NC_000010.11:g.70819647_70819648dup, NC_000010.11:g.70819646_70819648dup, NC_000010.11:g.70819645_70819648dup, NC_000010.11:g.70819644_70819648dup, NC_000010.11:g.70819643_70819648dup, NC_000010.11:g.70819642_70819648dup, NC_000010.11:g.70819641_70819648dup, NC_000010.11:g.70819639_70819648dup, NC_000010.10:g.72579396_72579404del, NC_000010.10:g.72579399_72579404del, NC_000010.10:g.72579400_72579404del, NC_000010.10:g.72579401_72579404del, NC_000010.10:g.72579402_72579404del, NC_000010.10:g.72579403_72579404del, NC_000010.10:g.72579404del, NC_000010.10:g.72579404dup, NC_000010.10:g.72579403_72579404dup, NC_000010.10:g.72579402_72579404dup, NC_000010.10:g.72579401_72579404dup, NC_000010.10:g.72579400_72579404dup, NC_000010.10:g.72579399_72579404dup, NC_000010.10:g.72579398_72579404dup, NC_000010.10:g.72579397_72579404dup, NC_000010.10:g.72579395_72579404dup

                          13.

                          rs1491170677 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            10:70815807 (GRCh38)
                            10:72575564 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:70815807::T
                            Gene:
                            SGPL1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1491164632 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              10:70848455 (GRCh38)
                              10:72608213 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:70848455::C
                              Gene:
                              SGPL1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1491068024 has merged into rs35049583 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                10:70870519 (GRCh38)
                                10:72630276 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:70870507:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:70870507:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:70870507:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:70870507:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:70870507:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:70870507:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                SGPL1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAA=0./0 (ALFA)
                                A=0.06087/1020 (TOMMO)
                                A=0.125/5 (GENOME_DK)
                                A=0.13025/502 (ALSPAC)
                                A=0.14058/704 (1000Genomes)
                                A=0.14347/532 (TWINSUK)
                                HGVS:

                                16.

                                rs1491064476 has merged into rs1056050842 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TT>-,TTTT [Show Flanks]
                                  Chromosome:
                                  10:70879407 (GRCh38)
                                  10:72639164 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:70879403:TTTTT:TTT,NC_000010.11:70879403:TTTTT:TTTTTTT
                                  Gene:
                                  SGPL1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000010.11:g.70879407_70879408del, NC_000010.11:g.70879407_70879408dup, NC_000010.10:g.72639164_72639165del, NC_000010.10:g.72639164_72639165dup, NM_003901.4:c.*2072_*2073del, NM_003901.4:c.*2072_*2073dup, NM_003901.3:c.*2072_*2073del, NM_003901.3:c.*2072_*2073dup, XM_011540316.3:c.*2072_*2073del, XM_011540316.3:c.*2072_*2073dup, XM_011540316.2:c.*2072_*2073del, XM_011540316.2:c.*2072_*2073dup, XM_011540316.1:c.*2072_*2073del, XM_011540316.1:c.*2072_*2073dup, XM_005270263.2:c.*2072_*2073del, XM_005270263.2:c.*2072_*2073dup, XM_005270263.1:c.*2072_*2073del, XM_005270263.1:c.*2072_*2073dup, XM_011540317.2:c.*2072_*2073del, XM_011540317.2:c.*2072_*2073dup, XM_011540317.1:c.*2072_*2073del, XM_011540317.1:c.*2072_*2073dup, XM_011540318.2:c.*2072_*2073del, XM_011540318.2:c.*2072_*2073dup, XM_011540318.1:c.*2072_*2073del, XM_011540318.1:c.*2072_*2073dup, XM_047425981.1:c.*2072_*2073del, XM_047425981.1:c.*2072_*2073dup

                                  17.

                                  rs1491056835 has merged into rs35676112 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    10:70863301 (GRCh38)
                                    10:72623058 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70863289:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    SGPL1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000010.11:g.70863301_70863311del, NC_000010.11:g.70863306_70863311del, NC_000010.11:g.70863307_70863311del, NC_000010.11:g.70863308_70863311del, NC_000010.11:g.70863309_70863311del, NC_000010.11:g.70863310_70863311del, NC_000010.11:g.70863311del, NC_000010.11:g.70863311dup, NC_000010.11:g.70863310_70863311dup, NC_000010.11:g.70863309_70863311dup, NC_000010.11:g.70863290_70863311T[31]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.70863292_70863311dup, NC_000010.10:g.72623058_72623068del, NC_000010.10:g.72623063_72623068del, NC_000010.10:g.72623064_72623068del, NC_000010.10:g.72623065_72623068del, NC_000010.10:g.72623066_72623068del, NC_000010.10:g.72623067_72623068del, NC_000010.10:g.72623068del, NC_000010.10:g.72623068dup, NC_000010.10:g.72623067_72623068dup, NC_000010.10:g.72623066_72623068dup, NC_000010.10:g.72623047_72623068T[31]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.72623049_72623068dup

                                    18.

                                    rs1491014123 has merged into rs66962270 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      10:70835748 (GRCh38)
                                      10:72595504 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:70835735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      SGPL1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAA=0./0 (ALFA)
                                      HGVS:
                                      NC_000010.11:g.70835748_70835753del, NC_000010.11:g.70835749_70835753del, NC_000010.11:g.70835750_70835753del, NC_000010.11:g.70835751_70835753del, NC_000010.11:g.70835752_70835753del, NC_000010.11:g.70835753del, NC_000010.11:g.70835753dup, NC_000010.11:g.70835752_70835753dup, NC_000010.11:g.70835751_70835753dup, NC_000010.11:g.70835750_70835753dup, NC_000010.11:g.70835749_70835753dup, NC_000010.11:g.70835748_70835753dup, NC_000010.11:g.70835747_70835753dup, NC_000010.11:g.70835746_70835753dup, NC_000010.11:g.70835745_70835753dup, NC_000010.11:g.70835744_70835753dup, NC_000010.11:g.70835743_70835753dup, NC_000010.11:g.70835742_70835753dup, NC_000010.11:g.70835741_70835753dup, NC_000010.11:g.70835740_70835753dup, NC_000010.11:g.70835739_70835753dup, NC_000010.11:g.70835738_70835753dup, NC_000010.11:g.70835737_70835753dup, NC_000010.11:g.70835736_70835753dup, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.70835753_70835754insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595504_72595509del, NC_000010.10:g.72595505_72595509del, NC_000010.10:g.72595506_72595509del, NC_000010.10:g.72595507_72595509del, NC_000010.10:g.72595508_72595509del, NC_000010.10:g.72595509del, NC_000010.10:g.72595509dup, NC_000010.10:g.72595508_72595509dup, NC_000010.10:g.72595507_72595509dup, NC_000010.10:g.72595506_72595509dup, NC_000010.10:g.72595505_72595509dup, NC_000010.10:g.72595504_72595509dup, NC_000010.10:g.72595503_72595509dup, NC_000010.10:g.72595502_72595509dup, NC_000010.10:g.72595501_72595509dup, NC_000010.10:g.72595500_72595509dup, NC_000010.10:g.72595499_72595509dup, NC_000010.10:g.72595498_72595509dup, NC_000010.10:g.72595497_72595509dup, NC_000010.10:g.72595496_72595509dup, NC_000010.10:g.72595495_72595509dup, NC_000010.10:g.72595494_72595509dup, NC_000010.10:g.72595493_72595509dup, NC_000010.10:g.72595492_72595509dup, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.72595509_72595510insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                                      19.

                                      rs1490976492 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        10:70857397 (GRCh38)
                                        10:72617154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:70857396:T:G
                                        Gene:
                                        SGPL1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490969605 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          10:70841768 (GRCh38)
                                          10:72601525 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:70841767:C:A
                                          Gene:
                                          SGPL1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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