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Items: 1 to 20 of 16485

1.

rs1491565336 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    6:37698162 (GRCh38)
    6:37665938 (GRCh37)
    Canonical SPDI:
    NC_000006.12:37698160:TTT:T
    Gene:
    MDGA1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    -=0.03915/22 (NorthernSweden)
    -=0.04668/3436 (GnomAD)
    -=0.13835/2121 (TOMMO)
    HGVS:
    2.

    rs1491539878 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T [Show Flanks]
      Chromosome:
      6:37698174 (GRCh38)
      6:37665950 (GRCh37)
      Canonical SPDI:
      NC_000006.12:37698172:TTT:T,NC_000006.12:37698172:TTT:TT
      Gene:
      MDGA1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      -=0.01176/180 (TOMMO)
      -=0.01457/421 (GnomAD)
      HGVS:
      3.

      rs1491497538 has merged into rs35594367 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
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how Flanks]
        Chromosome:
        6:37664861 (GRCh38)
        6:37632637 (GRCh37)
        Canonical SPDI:
        NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:37664842:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
        Gene:
        MDGA1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACACACACACAC=0./0 (ALFA)
        ACACACACACACACACAC=0./0 (GENOME_DK)
        HGVS:
        NC_000006.12:g.37664843AC[9], NC_000006.12:g.37664843AC[10], NC_000006.12:g.37664843AC[12], NC_000006.12:g.37664843AC[13], NC_000006.12:g.37664843AC[14], NC_000006.12:g.37664843AC[15], NC_000006.12:g.37664843AC[16], NC_000006.12:g.37664843AC[17], NC_000006.12:g.37664843AC[18], NC_000006.12:g.37664843AC[19], NC_000006.12:g.37664843AC[20], NC_000006.12:g.37664843AC[21], NC_000006.12:g.37664843AC[22], NC_000006.12:g.37664843AC[23], NC_000006.12:g.37664843AC[24], NC_000006.12:g.37664843AC[25], NC_000006.12:g.37664843AC[26], NC_000006.12:g.37664843AC[27], NC_000006.12:g.37664843AC[28], NC_000006.12:g.37664843AC[29], NC_000006.12:g.37664843AC[30], NC_000006.12:g.37664843AC[31], NC_000006.12:g.37664843AC[33], NC_000006.12:g.37664843AC[34], NC_000006.12:g.37664843AC[35], NC_000006.12:g.37664843AC[36], NC_000006.12:g.37664843AC[37], NC_000006.12:g.37664843AC[38], NC_000006.12:g.37664843AC[39], NC_000006.12:g.37664843AC[40], NC_000006.12:g.37664843AC[41], NC_000006.12:g.37664843AC[42], NC_000006.12:g.37664843AC[43], NC_000006.12:g.37664843AC[44], NC_000006.12:g.37664843AC[45], NC_000006.12:g.37664843AC[46], NC_000006.12:g.37664843AC[47], NC_000006.12:g.37664843AC[50], NC_000006.12:g.37664843AC[52], NC_000006.12:g.37664843AC[53], NC_000006.11:g.37632619AC[9], NC_000006.11:g.37632619AC[10], NC_000006.11:g.37632619AC[12], NC_000006.11:g.37632619AC[13], NC_000006.11:g.37632619AC[14], NC_000006.11:g.37632619AC[15], NC_000006.11:g.37632619AC[16], NC_000006.11:g.37632619AC[17], NC_000006.11:g.37632619AC[18], NC_000006.11:g.37632619AC[19], NC_000006.11:g.37632619AC[20], NC_000006.11:g.37632619AC[21], NC_000006.11:g.37632619AC[22], NC_000006.11:g.37632619AC[23], NC_000006.11:g.37632619AC[24], NC_000006.11:g.37632619AC[25], NC_000006.11:g.37632619AC[26], NC_000006.11:g.37632619AC[27], NC_000006.11:g.37632619AC[28], NC_000006.11:g.37632619AC[29], NC_000006.11:g.37632619AC[30], NC_000006.11:g.37632619AC[31], NC_000006.11:g.37632619AC[33], NC_000006.11:g.37632619AC[34], NC_000006.11:g.37632619AC[35], NC_000006.11:g.37632619AC[36], NC_000006.11:g.37632619AC[37], NC_000006.11:g.37632619AC[38], NC_000006.11:g.37632619AC[39], NC_000006.11:g.37632619AC[40], NC_000006.11:g.37632619AC[41], NC_000006.11:g.37632619AC[42], NC_000006.11:g.37632619AC[43], NC_000006.11:g.37632619AC[44], NC_000006.11:g.37632619AC[45], NC_000006.11:g.37632619AC[46], NC_000006.11:g.37632619AC[47], NC_000006.11:g.37632619AC[50], NC_000006.11:g.37632619AC[52], NC_000006.11:g.37632619AC[53], NG_051764.1:g.38085GT[9], NG_051764.1:g.38085GT[10], NG_051764.1:g.38085GT[12], NG_051764.1:g.38085GT[13], NG_051764.1:g.38085GT[14], NG_051764.1:g.38085GT[15], NG_051764.1:g.38085GT[16], NG_051764.1:g.38085GT[17], NG_051764.1:g.38085GT[18], NG_051764.1:g.38085GT[19], NG_051764.1:g.38085GT[20], NG_051764.1:g.38085GT[21], NG_051764.1:g.38085GT[22], NG_051764.1:g.38085GT[23], NG_051764.1:g.38085GT[24], NG_051764.1:g.38085GT[25], NG_051764.1:g.38085GT[26], NG_051764.1:g.38085GT[27], NG_051764.1:g.38085GT[28], NG_051764.1:g.38085GT[29], NG_051764.1:g.38085GT[30], NG_051764.1:g.38085GT[31], NG_051764.1:g.38085GT[33], NG_051764.1:g.38085GT[34], NG_051764.1:g.38085GT[35], NG_051764.1:g.38085GT[36], NG_051764.1:g.38085GT[37], NG_051764.1:g.38085GT[38], NG_051764.1:g.38085GT[39], NG_051764.1:g.38085GT[40], NG_051764.1:g.38085GT[41], NG_051764.1:g.38085GT[42], NG_051764.1:g.38085GT[43], NG_051764.1:g.38085GT[44], NG_051764.1:g.38085GT[45], NG_051764.1:g.38085GT[46], NG_051764.1:g.38085GT[47], NG_051764.1:g.38085GT[50], NG_051764.1:g.38085GT[52], NG_051764.1:g.38085GT[53]
        4.

        rs1491471574 has merged into rs61046567 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
          Chromosome:
          6:37664616 (GRCh38)
          6:37632392 (GRCh37)
          Canonical SPDI:
          NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:37664600:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
          Gene:
          MDGA1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACACACACACACACACA=0./0 (ALFA)
          HGVS:
          NC_000006.12:g.37664602CA[7], NC_000006.12:g.37664602CA[8], NC_000006.12:g.37664602CA[10], NC_000006.12:g.37664602CA[11], NC_000006.12:g.37664602CA[12], NC_000006.12:g.37664602CA[13], NC_000006.12:g.37664602CA[14], NC_000006.12:g.37664602CA[15], NC_000006.12:g.37664602CA[16], NC_000006.12:g.37664602CA[18], NC_000006.12:g.37664602CA[19], NC_000006.12:g.37664602CA[20], NC_000006.12:g.37664602CA[21], NC_000006.12:g.37664602CA[22], NC_000006.12:g.37664602CA[23], NC_000006.12:g.37664602CA[24], NC_000006.12:g.37664602CA[25], NC_000006.12:g.37664602CA[26], NC_000006.12:g.37664602CA[27], NC_000006.12:g.37664602CA[28], NC_000006.12:g.37664602CA[29], NC_000006.12:g.37664602CA[30], NC_000006.12:g.37664602CA[31], NC_000006.12:g.37664602CA[32], NC_000006.12:g.37664602CA[33], NC_000006.12:g.37664602CA[34], NC_000006.11:g.37632378CA[7], NC_000006.11:g.37632378CA[8], NC_000006.11:g.37632378CA[10], NC_000006.11:g.37632378CA[11], NC_000006.11:g.37632378CA[12], NC_000006.11:g.37632378CA[13], NC_000006.11:g.37632378CA[14], NC_000006.11:g.37632378CA[15], NC_000006.11:g.37632378CA[16], NC_000006.11:g.37632378CA[18], NC_000006.11:g.37632378CA[19], NC_000006.11:g.37632378CA[20], NC_000006.11:g.37632378CA[21], NC_000006.11:g.37632378CA[22], NC_000006.11:g.37632378CA[23], NC_000006.11:g.37632378CA[24], NC_000006.11:g.37632378CA[25], NC_000006.11:g.37632378CA[26], NC_000006.11:g.37632378CA[27], NC_000006.11:g.37632378CA[28], NC_000006.11:g.37632378CA[29], NC_000006.11:g.37632378CA[30], NC_000006.11:g.37632378CA[31], NC_000006.11:g.37632378CA[32], NC_000006.11:g.37632378CA[33], NC_000006.11:g.37632378CA[34], NG_051764.1:g.38357GT[7], NG_051764.1:g.38357GT[8], NG_051764.1:g.38357GT[10], NG_051764.1:g.38357GT[11], NG_051764.1:g.38357GT[12], NG_051764.1:g.38357GT[13], NG_051764.1:g.38357GT[14], NG_051764.1:g.38357GT[15], NG_051764.1:g.38357GT[16], NG_051764.1:g.38357GT[18], NG_051764.1:g.38357GT[19], NG_051764.1:g.38357GT[20], NG_051764.1:g.38357GT[21], NG_051764.1:g.38357GT[22], NG_051764.1:g.38357GT[23], NG_051764.1:g.38357GT[24], NG_051764.1:g.38357GT[25], NG_051764.1:g.38357GT[26], NG_051764.1:g.38357GT[27], NG_051764.1:g.38357GT[28], NG_051764.1:g.38357GT[29], NG_051764.1:g.38357GT[30], NG_051764.1:g.38357GT[31], NG_051764.1:g.38357GT[32], NG_051764.1:g.38357GT[33], NG_051764.1:g.38357GT[34]
          5.

          rs1491459953 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AG>-,AGAG [Show Flanks]
            Chromosome:
            6:37640861 (GRCh38)
            6:37608637 (GRCh37)
            Canonical SPDI:
            NC_000006.12:37640854:AGAGAGAG:AGAGAG,NC_000006.12:37640854:AGAGAGAG:AGAGAGAGAG
            Gene:
            MDGA1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AGAGAGAGAG=0./0 (ALFA)
            HGVS:
            6.

            rs1491446965 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              6:37640854 (GRCh38)
              6:37608630 (GRCh37)
              Canonical SPDI:
              NC_000006.12:37640853:AA:
              Gene:
              MDGA1 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000071/1 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              8.

              rs1491393682 has merged into rs61618174 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
                Chromosome:
                6:37681007 (GRCh38)
                6:37648783 (GRCh37)
                Canonical SPDI:
                NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:37680996:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
                Gene:
                MDGA1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCCCCCCCCCCCCC=0./0 (ALFA)
                -=0.4411/2209 (1000Genomes)
                C=0.475/19 (GENOME_DK)
                HGVS:
                9.

                rs1491376274 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->C,CGC,CGCTCTCC,CTCTCGCTCTCC,CTCTCTCC [Show Flanks]
                  Chromosome:
                  6:37698256 (GRCh38)
                  6:37666033 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:37698256::C,NC_000006.12:37698256::CGC,NC_000006.12:37698256::CGCTCTCC,NC_000006.12:37698256::CTCTCGCTCTCC,NC_000006.12:37698256::CTCTCTCC
                  Gene:
                  MDGA1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CGC=0./0 (ALFA)
                  CTCTCGCTCTCC=0.00031/5 (TOMMO)
                  HGVS:
                  10.

                  rs1491307815 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    6:37698161 (GRCh38)
                    6:37665938 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:37698161::C
                    Gene:
                    MDGA1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.00177/27 (TOMMO)
                    C=0.00671/153 (GnomAD)
                    HGVS:
                    11.

                    rs1491302256 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->GACACACACACCCA
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      12.

                      rs1491277211 has merged into rs34277023 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        6:37666368 (GRCh38)
                        6:37634144 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:37666359:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        MDGA1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0./0 (ALFA)
                        -=0.1187/440 (TWINSUK)
                        -=0.1253/483 (ALSPAC)
                        HGVS:
                        NC_000006.12:g.37666368_37666374del, NC_000006.12:g.37666369_37666374del, NC_000006.12:g.37666371_37666374del, NC_000006.12:g.37666372_37666374del, NC_000006.12:g.37666373_37666374del, NC_000006.12:g.37666374del, NC_000006.12:g.37666374dup, NC_000006.12:g.37666373_37666374dup, NC_000006.12:g.37666372_37666374dup, NC_000006.12:g.37666368_37666374dup, NC_000006.12:g.37666374_37666375insAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.37666374_37666375insAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.37634144_37634150del, NC_000006.11:g.37634145_37634150del, NC_000006.11:g.37634147_37634150del, NC_000006.11:g.37634148_37634150del, NC_000006.11:g.37634149_37634150del, NC_000006.11:g.37634150del, NC_000006.11:g.37634150dup, NC_000006.11:g.37634149_37634150dup, NC_000006.11:g.37634148_37634150dup, NC_000006.11:g.37634144_37634150dup, NC_000006.11:g.37634150_37634151insAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.37634150_37634151insAAAAAAAAAAAAAAAAAAAAA, NG_051764.1:g.36625_36631del, NG_051764.1:g.36626_36631del, NG_051764.1:g.36628_36631del, NG_051764.1:g.36629_36631del, NG_051764.1:g.36630_36631del, NG_051764.1:g.36631del, NG_051764.1:g.36631dup, NG_051764.1:g.36630_36631dup, NG_051764.1:g.36629_36631dup, NG_051764.1:g.36625_36631dup, NG_051764.1:g.36631_36632insTTTTTTTTTTTTTTTTTTT, NG_051764.1:g.36631_36632insTTTTTTTTTTTTTTTTTTTTT
                        13.

                        rs1491254378 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C,CCC,G [Show Flanks]
                          Chromosome:
                          6:37698173 (GRCh38)
                          6:37665950 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:37698173::C,NC_000006.12:37698173::CCC,NC_000006.12:37698173::G
                          Gene:
                          MDGA1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1491199941 has merged into rs1367724152 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            6:37677675 (GRCh38)
                            6:37645451 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:37677673:TCT:T
                            Gene:
                            MDGA1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            -=0.000008/1 (GnomAD)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            15.

                            rs1491192433 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              6:37666191 (GRCh38)
                              6:37633967 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:37666189:ACA:A
                              Gene:
                              MDGA1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1491118590 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                6:37666359 (GRCh38)
                                6:37634135 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:37666358:CA:
                                Gene:
                                MDGA1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                17.

                                rs1491104863 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TCTCTCTCT [Show Flanks]
                                  Chromosome:
                                  6:37698245 (GRCh38)
                                  6:37666022 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:37698245:TCTCTCTCT:TCTCTCTCTTCTCTCTCT
                                  Gene:
                                  MDGA1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TCTCTCTCTTCTCTCTCT=0.00936/111 (ALFA)
                                  TCTCTCTCT=0.02603/408 (TOMMO)
                                  TCTCTCTCT=0.0539/1270 (GnomAD)
                                  TCTCTCTCT=0.06257/109 (Korea1K)
                                  HGVS:
                                  18.

                                  rs1491081198 has merged into rs34171567 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    6:37642190 (GRCh38)
                                    6:37609966 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:37642179:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    MDGA1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTT=0./0 (ALFA)
                                    T=0.4281/2144 (1000Genomes)
                                    HGVS:
                                    NC_000006.12:g.37642190_37642196del, NC_000006.12:g.37642191_37642196del, NC_000006.12:g.37642192_37642196del, NC_000006.12:g.37642193_37642196del, NC_000006.12:g.37642194_37642196del, NC_000006.12:g.37642195_37642196del, NC_000006.12:g.37642196del, NC_000006.12:g.37642196dup, NC_000006.12:g.37642195_37642196dup, NC_000006.12:g.37642194_37642196dup, NC_000006.12:g.37642193_37642196dup, NC_000006.12:g.37642192_37642196dup, NC_000006.12:g.37642191_37642196dup, NC_000006.12:g.37642189_37642196dup, NC_000006.11:g.37609966_37609972del, NC_000006.11:g.37609967_37609972del, NC_000006.11:g.37609968_37609972del, NC_000006.11:g.37609969_37609972del, NC_000006.11:g.37609970_37609972del, NC_000006.11:g.37609971_37609972del, NC_000006.11:g.37609972del, NC_000006.11:g.37609972dup, NC_000006.11:g.37609971_37609972dup, NC_000006.11:g.37609970_37609972dup, NC_000006.11:g.37609969_37609972dup, NC_000006.11:g.37609968_37609972dup, NC_000006.11:g.37609967_37609972dup, NC_000006.11:g.37609965_37609972dup, NG_051764.1:g.60805_60811del, NG_051764.1:g.60806_60811del, NG_051764.1:g.60807_60811del, NG_051764.1:g.60808_60811del, NG_051764.1:g.60809_60811del, NG_051764.1:g.60810_60811del, NG_051764.1:g.60811del, NG_051764.1:g.60811dup, NG_051764.1:g.60810_60811dup, NG_051764.1:g.60809_60811dup, NG_051764.1:g.60808_60811dup, NG_051764.1:g.60807_60811dup, NG_051764.1:g.60806_60811dup, NG_051764.1:g.60804_60811dup
                                    19.

                                    rs1491073670 has merged into rs11396920 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      6:37656388 (GRCh38)
                                      6:37624164 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:37656377:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      MDGA1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                      TT=0.06046/233 (ALSPAC)
                                      TT=0.07282/270 (TWINSUK)
                                      HGVS:
                                      20.

                                      rs1491047097 has merged into rs10717477 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                                        Chromosome:
                                        6:37662174 (GRCh38)
                                        6:37629950 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:37662162:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                                        Gene:
                                        MDGA1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAAAAAA=0./0 (ALFA)
                                        A=0.2474/1239 (1000Genomes)
                                        HGVS:

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