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1.

rs1491559555 has merged into rs10577314 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG [Show Flanks]
    Chromosome:
    1:31578450 (GRCh38)
    1:32044051 (GRCh37)
    Canonical SPDI:
    NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:31578434:GTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
    Gene:
    TINAGL1 (Varview), LOC105378626 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGTGTGTGTGTGTGTG=0./0 (ALFA)
    GT=0.30794/291 (1000Genomes)
    HGVS:
    NC_000001.11:g.31578436TG[7], NC_000001.11:g.31578436TG[8], NC_000001.11:g.31578436TG[9], NC_000001.11:g.31578436TG[10], NC_000001.11:g.31578436TG[11], NC_000001.11:g.31578436TG[13], NC_000001.11:g.31578436TG[14], NC_000001.11:g.31578436TG[15], NC_000001.11:g.31578436TG[16], NC_000001.10:g.32044037TG[7], NC_000001.10:g.32044037TG[8], NC_000001.10:g.32044037TG[9], NC_000001.10:g.32044037TG[10], NC_000001.10:g.32044037TG[11], NC_000001.10:g.32044037TG[13], NC_000001.10:g.32044037TG[14], NC_000001.10:g.32044037TG[15], NC_000001.10:g.32044037TG[16], NG_028164.1:g.6952TG[7], NG_028164.1:g.6952TG[8], NG_028164.1:g.6952TG[9], NG_028164.1:g.6952TG[10], NG_028164.1:g.6952TG[11], NG_028164.1:g.6952TG[13], NG_028164.1:g.6952TG[14], NG_028164.1:g.6952TG[15], NG_028164.1:g.6952TG[16], XR_001737622.2:n.1086AC[7], XR_001737622.2:n.1086AC[8], XR_001737622.2:n.1086AC[9], XR_001737622.2:n.1086AC[10], XR_001737622.2:n.1086AC[11], XR_001737622.2:n.1086AC[13], XR_001737622.2:n.1086AC[14], XR_001737622.2:n.1086AC[15], XR_001737622.2:n.1086AC[16], XR_001737620.2:n.1086AC[7], XR_001737620.2:n.1086AC[8], XR_001737620.2:n.1086AC[9], XR_001737620.2:n.1086AC[10], XR_001737620.2:n.1086AC[11], XR_001737620.2:n.1086AC[13], XR_001737620.2:n.1086AC[14], XR_001737620.2:n.1086AC[15], XR_001737620.2:n.1086AC[16], XR_007065603.1:n.1086AC[7], XR_007065603.1:n.1086AC[8], XR_007065603.1:n.1086AC[9], XR_007065603.1:n.1086AC[10], XR_007065603.1:n.1086AC[11], XR_007065603.1:n.1086AC[13], XR_007065603.1:n.1086AC[14], XR_007065603.1:n.1086AC[15], XR_007065603.1:n.1086AC[16], XR_007065599.1:n.1086AC[7], XR_007065599.1:n.1086AC[8], XR_007065599.1:n.1086AC[9], XR_007065599.1:n.1086AC[10], XR_007065599.1:n.1086AC[11], XR_007065599.1:n.1086AC[13], XR_007065599.1:n.1086AC[14], XR_007065599.1:n.1086AC[15], XR_007065599.1:n.1086AC[16]

    2.

    rs1491526664 has merged into rs34119771 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
      Chromosome:
      1:31578736 (GRCh38)
      1:32044337 (GRCh37)
      Canonical SPDI:
      NC_000001.11:31578720:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000001.11:31578720:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000001.11:31578720:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:31578720:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG
      Gene:
      TINAGL1 (Varview), LOC105378626 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTG=0./0 (ALFA)
      HGVS:

      3.

      rs1491351548 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CC [Show Flanks]
        Chromosome:
        1:31580252 (GRCh38)
        1:32045854 (GRCh37)
        Canonical SPDI:
        NC_000001.11:31580252:C:CCC
        Gene:
        TINAGL1 (Varview), LOC105378626 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        HGVS:

        4.

        rs1491307153 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GT,TT [Show Flanks]
          Chromosome:
          1:31580163 (GRCh38)
          1:32045765 (GRCh37)
          Canonical SPDI:
          NC_000001.11:31580163:T:TGT,NC_000001.11:31580163:T:TTT
          Gene:
          TINAGL1 (Varview), LOC105378626 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTT=0./0 (ALFA)
          TT=0.0003/13 (GnomAD)
          TT=0.00729/13 (Korea1K)
          TT=0.01992/322 (TOMMO)
          HGVS:

          5.

          rs1491240750 has merged into rs761677862 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
            Chromosome:
            1:31580175 (GRCh38)
            1:32045776 (GRCh37)
            Canonical SPDI:
            NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:31580162:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
            Gene:
            TINAGL1 (Varview), LOC105378626 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CTCTCTCTCTCTCT=0./0 (ALFA)
            CTCTCTCT=0.44473/1714 (ALSPAC)
            HGVS:
            NC_000001.11:g.31580163CT[6], NC_000001.11:g.31580163CT[7], NC_000001.11:g.31580163CT[8], NC_000001.11:g.31580163CT[9], NC_000001.11:g.31580163CT[11], NC_000001.11:g.31580163CT[12], NC_000001.11:g.31580163CT[13], NC_000001.11:g.31580163CT[14], NC_000001.11:g.31580163CT[15], NC_000001.11:g.31580163CT[16], NC_000001.11:g.31580163CT[17], NC_000001.11:g.31580163CT[18], NC_000001.11:g.31580163CT[19], NC_000001.11:g.31580163CT[20], NC_000001.11:g.31580163CT[21], NC_000001.11:g.31580163CT[22], NC_000001.11:g.31580163CT[23], NC_000001.11:g.31580163CT[24], NC_000001.11:g.31580163CT[26], NC_000001.11:g.31580163CT[27], NC_000001.11:g.31580163CT[28], NC_000001.11:g.31580163CT[29], NC_000001.11:g.31580163CT[30], NC_000001.11:g.31580163CT[31], NC_000001.11:g.31580163CT[32], NC_000001.11:g.31580163CT[33], NC_000001.11:g.31580163CT[35], NC_000001.11:g.31580163CT[36], NC_000001.11:g.31580163CT[37], NC_000001.11:g.31580163CT[38], NC_000001.11:g.31580163CT[39], NC_000001.11:g.31580163CT[40], NC_000001.11:g.31580163CT[42], NC_000001.11:g.31580163CT[43], NC_000001.11:g.31580163CT[44], NC_000001.11:g.31580163CT[46], NC_000001.11:g.31580163CT[49], NC_000001.10:g.32045764CT[6], NC_000001.10:g.32045764CT[7], NC_000001.10:g.32045764CT[8], NC_000001.10:g.32045764CT[9], NC_000001.10:g.32045764CT[11], NC_000001.10:g.32045764CT[12], NC_000001.10:g.32045764CT[13], NC_000001.10:g.32045764CT[14], NC_000001.10:g.32045764CT[15], NC_000001.10:g.32045764CT[16], NC_000001.10:g.32045764CT[17], NC_000001.10:g.32045764CT[18], NC_000001.10:g.32045764CT[19], NC_000001.10:g.32045764CT[20], NC_000001.10:g.32045764CT[21], NC_000001.10:g.32045764CT[22], NC_000001.10:g.32045764CT[23], NC_000001.10:g.32045764CT[24], NC_000001.10:g.32045764CT[26], NC_000001.10:g.32045764CT[27], NC_000001.10:g.32045764CT[28], NC_000001.10:g.32045764CT[29], NC_000001.10:g.32045764CT[30], NC_000001.10:g.32045764CT[31], NC_000001.10:g.32045764CT[32], NC_000001.10:g.32045764CT[33], NC_000001.10:g.32045764CT[35], NC_000001.10:g.32045764CT[36], NC_000001.10:g.32045764CT[37], NC_000001.10:g.32045764CT[38], NC_000001.10:g.32045764CT[39], NC_000001.10:g.32045764CT[40], NC_000001.10:g.32045764CT[42], NC_000001.10:g.32045764CT[43], NC_000001.10:g.32045764CT[44], NC_000001.10:g.32045764CT[46], NC_000001.10:g.32045764CT[49], NG_028164.1:g.8679CT[6], NG_028164.1:g.8679CT[7], NG_028164.1:g.8679CT[8], NG_028164.1:g.8679CT[9], NG_028164.1:g.8679CT[11], NG_028164.1:g.8679CT[12], NG_028164.1:g.8679CT[13], NG_028164.1:g.8679CT[14], NG_028164.1:g.8679CT[15], NG_028164.1:g.8679CT[16], NG_028164.1:g.8679CT[17], NG_028164.1:g.8679CT[18], NG_028164.1:g.8679CT[19], NG_028164.1:g.8679CT[20], NG_028164.1:g.8679CT[21], NG_028164.1:g.8679CT[22], NG_028164.1:g.8679CT[23], NG_028164.1:g.8679CT[24], NG_028164.1:g.8679CT[26], NG_028164.1:g.8679CT[27], NG_028164.1:g.8679CT[28], NG_028164.1:g.8679CT[29], NG_028164.1:g.8679CT[30], NG_028164.1:g.8679CT[31], NG_028164.1:g.8679CT[32], NG_028164.1:g.8679CT[33], NG_028164.1:g.8679CT[35], NG_028164.1:g.8679CT[36], NG_028164.1:g.8679CT[37], NG_028164.1:g.8679CT[38], NG_028164.1:g.8679CT[39], NG_028164.1:g.8679CT[40], NG_028164.1:g.8679CT[42], NG_028164.1:g.8679CT[43], NG_028164.1:g.8679CT[44], NG_028164.1:g.8679CT[46], NG_028164.1:g.8679CT[49]

            6.

            rs1490917298 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:31578279 (GRCh38)
              1:32043880 (GRCh37)
              Canonical SPDI:
              NC_000001.11:31578278:G:A
              Gene:
              TINAGL1 (Varview), LOC105378626 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00008/1 (ALFA)
              A=0.0005/14 (TOMMO)
              G=0.5/2 (SGDP_PRJ)
              HGVS:

              7.

              rs1490642968 has merged into rs937483688 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
                Chromosome:
                1:31587332 (GRCh38)
                1:32052933 (GRCh37)
                Canonical SPDI:
                NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:31587322:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                Gene:
                TINAGL1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTT=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                T=0.005/3 (NorthernSweden)
                HGVS:
                NC_000001.11:g.31587332_31587338del, NC_000001.11:g.31587333_31587338del, NC_000001.11:g.31587334_31587338del, NC_000001.11:g.31587335_31587338del, NC_000001.11:g.31587336_31587338del, NC_000001.11:g.31587337_31587338del, NC_000001.11:g.31587338del, NC_000001.11:g.31587338dup, NC_000001.11:g.31587337_31587338dup, NC_000001.11:g.31587336_31587338dup, NC_000001.10:g.32052933_32052939del, NC_000001.10:g.32052934_32052939del, NC_000001.10:g.32052935_32052939del, NC_000001.10:g.32052936_32052939del, NC_000001.10:g.32052937_32052939del, NC_000001.10:g.32052938_32052939del, NC_000001.10:g.32052939del, NC_000001.10:g.32052939dup, NC_000001.10:g.32052938_32052939dup, NC_000001.10:g.32052937_32052939dup, NG_028164.1:g.15848_15854del, NG_028164.1:g.15849_15854del, NG_028164.1:g.15850_15854del, NG_028164.1:g.15851_15854del, NG_028164.1:g.15852_15854del, NG_028164.1:g.15853_15854del, NG_028164.1:g.15854del, NG_028164.1:g.15854dup, NG_028164.1:g.15853_15854dup, NG_028164.1:g.15852_15854dup, NM_022164.3:c.*353_*359del, NM_022164.3:c.*354_*359del, NM_022164.3:c.*355_*359del, NM_022164.3:c.*356_*359del, NM_022164.3:c.*357_*359del, NM_022164.3:c.*358_*359del, NM_022164.3:c.*359del, NM_022164.3:c.*359dup, NM_022164.3:c.*358_*359dup, NM_022164.3:c.*357_*359dup, NM_022164.2:c.*353_*359del, NM_022164.2:c.*354_*359del, NM_022164.2:c.*355_*359del, NM_022164.2:c.*356_*359del, NM_022164.2:c.*357_*359del, NM_022164.2:c.*358_*359del, NM_022164.2:c.*359del, NM_022164.2:c.*359dup, NM_022164.2:c.*358_*359dup, NM_022164.2:c.*357_*359dup, NM_001204414.2:c.*353_*359del, NM_001204414.2:c.*354_*359del, NM_001204414.2:c.*355_*359del, NM_001204414.2:c.*356_*359del, NM_001204414.2:c.*357_*359del, NM_001204414.2:c.*358_*359del, NM_001204414.2:c.*359del, NM_001204414.2:c.*359dup, NM_001204414.2:c.*358_*359dup, NM_001204414.2:c.*357_*359dup, NM_001204414.1:c.*353_*359del, NM_001204414.1:c.*354_*359del, NM_001204414.1:c.*355_*359del, NM_001204414.1:c.*356_*359del, NM_001204414.1:c.*357_*359del, NM_001204414.1:c.*358_*359del, NM_001204414.1:c.*359del, NM_001204414.1:c.*359dup, NM_001204414.1:c.*358_*359dup, NM_001204414.1:c.*357_*359dup, NM_001204415.2:c.*353_*359del, NM_001204415.2:c.*354_*359del, NM_001204415.2:c.*355_*359del, NM_001204415.2:c.*356_*359del, NM_001204415.2:c.*357_*359del, NM_001204415.2:c.*358_*359del, NM_001204415.2:c.*359del, NM_001204415.2:c.*359dup, NM_001204415.2:c.*358_*359dup, NM_001204415.2:c.*357_*359dup, NM_001204415.1:c.*353_*359del, NM_001204415.1:c.*354_*359del, NM_001204415.1:c.*355_*359del, NM_001204415.1:c.*356_*359del, NM_001204415.1:c.*357_*359del, NM_001204415.1:c.*358_*359del, NM_001204415.1:c.*359del, NM_001204415.1:c.*359dup, NM_001204415.1:c.*358_*359dup, NM_001204415.1:c.*357_*359dup, XM_005271106.4:c.*310_*316del, XM_005271106.4:c.*311_*316del, XM_005271106.4:c.*312_*316del, XM_005271106.4:c.*313_*316del, XM_005271106.4:c.*314_*316del, XM_005271106.4:c.*315_*316del, XM_005271106.4:c.*316del, XM_005271106.4:c.*316dup, XM_005271106.4:c.*315_*316dup, XM_005271106.4:c.*314_*316dup, XM_005271106.3:c.*310_*316del, XM_005271106.3:c.*311_*316del, XM_005271106.3:c.*312_*316del, XM_005271106.3:c.*313_*316del, XM_005271106.3:c.*314_*316del, XM_005271106.3:c.*315_*316del, XM_005271106.3:c.*316del, XM_005271106.3:c.*316dup, XM_005271106.3:c.*315_*316dup, XM_005271106.3:c.*314_*316dup, XM_005271106.2:c.*310_*316del, XM_005271106.2:c.*311_*316del, XM_005271106.2:c.*312_*316del, XM_005271106.2:c.*313_*316del, XM_005271106.2:c.*314_*316del, XM_005271106.2:c.*315_*316del, XM_005271106.2:c.*316del, XM_005271106.2:c.*316dup, XM_005271106.2:c.*315_*316dup, XM_005271106.2:c.*314_*316dup, XM_005271106.1:c.*310_*316del, XM_005271106.1:c.*311_*316del, XM_005271106.1:c.*312_*316del, XM_005271106.1:c.*313_*316del, XM_005271106.1:c.*314_*316del, XM_005271106.1:c.*315_*316del, XM_005271106.1:c.*316del, XM_005271106.1:c.*316dup, XM_005271106.1:c.*315_*316dup, XM_005271106.1:c.*314_*316dup, XM_005271107.2:c.*353_*359del, XM_005271107.2:c.*354_*359del, XM_005271107.2:c.*355_*359del, XM_005271107.2:c.*356_*359del, XM_005271107.2:c.*357_*359del, XM_005271107.2:c.*358_*359del, XM_005271107.2:c.*359del, XM_005271107.2:c.*359dup, XM_005271107.2:c.*358_*359dup, XM_005271107.2:c.*357_*359dup, XM_005271107.1:c.*353_*359del, XM_005271107.1:c.*354_*359del, XM_005271107.1:c.*355_*359del, XM_005271107.1:c.*356_*359del, XM_005271107.1:c.*357_*359del, XM_005271107.1:c.*358_*359del, XM_005271107.1:c.*359del, XM_005271107.1:c.*359dup, XM_005271107.1:c.*358_*359dup, XM_005271107.1:c.*357_*359dup, XM_011541946.2:c.*353_*359del, XM_011541946.2:c.*354_*359del, XM_011541946.2:c.*355_*359del, XM_011541946.2:c.*356_*359del, XM_011541946.2:c.*357_*359del, XM_011541946.2:c.*358_*359del, XM_011541946.2:c.*359del, XM_011541946.2:c.*359dup, XM_011541946.2:c.*358_*359dup, XM_011541946.2:c.*357_*359dup, XM_011541946.1:c.*353_*359del, XM_011541946.1:c.*354_*359del, XM_011541946.1:c.*355_*359del, XM_011541946.1:c.*356_*359del, XM_011541946.1:c.*357_*359del, XM_011541946.1:c.*358_*359del, XM_011541946.1:c.*359del, XM_011541946.1:c.*359dup, XM_011541946.1:c.*358_*359dup, XM_011541946.1:c.*357_*359dup, XM_047427608.1:c.*310_*316del, XM_047427608.1:c.*311_*316del, XM_047427608.1:c.*312_*316del, XM_047427608.1:c.*313_*316del, XM_047427608.1:c.*314_*316del, XM_047427608.1:c.*315_*316del, XM_047427608.1:c.*316del, XM_047427608.1:c.*316dup, XM_047427608.1:c.*315_*316dup, XM_047427608.1:c.*314_*316dup

                8.

                rs1490422736 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:31577794 (GRCh38)
                  1:32043395 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:31577793:G:A
                  Gene:
                  TINAGL1 (Varview), LOC105378626 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1490354837 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:31576831 (GRCh38)
                    1:32042432 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:31576830:G:C
                    Gene:
                    TINAGL1 (Varview), LOC105378626 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1490332407 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      1:31574420 (GRCh38)
                      1:32040021 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:31574419:A:T
                      Gene:
                      LOC105378626 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000066/1 (ALFA)
                      T=0.000021/3 (GnomAD)
                      T=0.000223/1 (Estonian)
                      HGVS:

                      11.

                      rs1490288391 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:31579012 (GRCh38)
                        1:32044613 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:31579011:G:A
                        Gene:
                        TINAGL1 (Varview), LOC105378626 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000022/3 (GnomAD)
                        HGVS:

                        12.

                        rs1490098560 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          1:31578500 (GRCh38)
                          1:32044101 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:31578499:G:A,NC_000001.11:31578499:G:T
                          Gene:
                          TINAGL1 (Varview), LOC105378626 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000008/1 (GnomAD)
                          HGVS:

                          13.

                          rs1489819269 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:31577155 (GRCh38)
                            1:32042756 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:31577154:C:T
                            Gene:
                            TINAGL1 (Varview), LOC105378626 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000012/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1489674991 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TCCGGCG>- [Show Flanks]
                              Chromosome:
                              1:31576526 (GRCh38)
                              1:32042127 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:31576522:GCGTCCGGCG:GCG
                              Gene:
                              TINAGL1 (Varview), LOC105378626 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GCG=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1489523889 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                1:31579846 (GRCh38)
                                1:32045447 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:31579845:T:A
                                Gene:
                                TINAGL1 (Varview), LOC105378626 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                HGVS:

                                16.

                                rs1489438150 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:31577224 (GRCh38)
                                  1:32042825 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:31577223:C:T
                                  Gene:
                                  TINAGL1 (Varview), LOC105378626 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489426962 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:31575328 (GRCh38)
                                    1:32040929 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:31575327:G:A
                                    Gene:
                                    TINAGL1 (Varview), LOC105378626 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489362987 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:31582573 (GRCh38)
                                      1:32048174 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:31582572:G:A
                                      Gene:
                                      TINAGL1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489000190 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:31576971 (GRCh38)
                                        1:32042572 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:31576970:G:C
                                        Gene:
                                        TINAGL1 (Varview), LOC105378626 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1487879486 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:31585958 (GRCh38)
                                          1:32051559 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:31585957:C:T
                                          Gene:
                                          TINAGL1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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