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Items: 1 to 20 of 1000

1.

rs1491579550 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    8:27590066 (GRCh38)
    8:27447584 (GRCh37)
    Canonical SPDI:
    NC_000008.11:27590066:AAAAAA:AAAAAAA
    Gene:
    LOC124901919 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    AAAAAAA=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1491560236 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C,CGT [Show Flanks]
      Chromosome:
      8:27596832 (GRCh38)
      8:27454350 (GRCh37)
      Canonical SPDI:
      NC_000008.11:27596832::C,NC_000008.11:27596832::CGT
      Gene:
      CLU (Varview), LOC124901919 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CGT=0./0 (ALFA)
      C=0.00202/123 (GnomAD)
      HGVS:

      3.

      rs1491544464 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TGCG,TGCGCG,TGCGCGCG,TGCGCGCGCG,TGCGCGCGCGCG,TGCGCGCGCGCGCG,TGTGCG,TGTGCGCG,TGTGCGCGCG,TGTGCGCGCGCG,TGTGCGCGCGCGCG,TGTGCGCGCGCGCGCG,TGTGCGCGCGCGCGCGCG,TGTGTGCG,TGTGTGCGCG,TGTGTGCGCGCG,TGTGTGCGCGCGCG,TGTGTGCGCGCGCGCG,TGTGTGCGCGCGCGCGCG,TGTGTGTGCG,TGTGTGTGCGCG,TGTGTGTGCGCGCG,TGTGTGTGCGCGCGCG,TGTGTGTGCGCGCGCGCG,TGTGTGTGTGCG,TGTGTGTGTGCGCG,TGTGTGTGTGCGCGCG,TGTGTGTGTGTGCG,TGTGTGTGTGTGCGCGCGCG,TGTGTGTGTGTGTGCG,TGTGTGTGTGTGTGCGCGCG,TGTGTGTGTGTGTGTGTGCG [Show Flanks]
        Chromosome:
        8:27525107 (GRCh38)
        8:27382625 (GRCh37)
        Canonical SPDI:
        NC_000008.11:27525107:G:GTGCG,NC_000008.11:27525107:G:GTGCGCG,NC_000008.11:27525107:G:GTGCGCGCG,NC_000008.11:27525107:G:GTGCGCGCGCG,NC_000008.11:27525107:G:GTGCGCGCGCGCG,NC_000008.11:27525107:G:GTGCGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGCG,NC_000008.11:27525107:G:GTGTGCGCG,NC_000008.11:27525107:G:GTGTGCGCGCG,NC_000008.11:27525107:G:GTGTGCGCGCGCG,NC_000008.11:27525107:G:GTGTGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGCGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGCGCGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGCG,NC_000008.11:27525107:G:GTGTGTGCGCG,NC_000008.11:27525107:G:GTGTGTGCGCGCG,NC_000008.11:27525107:G:GTGTGTGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGCGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGCG,NC_000008.11:27525107:G:GTGTGTGTGCGCG,NC_000008.11:27525107:G:GTGTGTGTGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGCGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGTGCG,NC_000008.11:27525107:G:GTGTGTGTGTGCGCG,NC_000008.11:27525107:G:GTGTGTGTGTGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGTGTGCG,NC_000008.11:27525107:G:GTGTGTGTGTGTGCGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGTGTGTGCG,NC_000008.11:27525107:G:GTGTGTGTGTGTGTGCGCGCG,NC_000008.11:27525107:G:GTGTGTGTGTGTGTGTGTGCG
        Gene:
        EPHX2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GTGCGCG=0./0 (ALFA)
        HGVS:
        NC_000008.11:g.27525108_27525109insTGCG, NC_000008.11:g.27525108_27525109insTGCGCG, NC_000008.11:g.27525108_27525109insTGCGCGCG, NC_000008.11:g.27525108_27525109insTGCGCGCGCG, NC_000008.11:g.27525108_27525109insTGCGCGCGCGCG, NC_000008.11:g.27525108_27525109insTGCGCGCGCGCGCG, NC_000008.11:g.27525108GT[2]GCG[1], NC_000008.11:g.27525108GT[2]GC[2]G[1], NC_000008.11:g.27525108GT[2]GC[3]G[1], NC_000008.11:g.27525108GT[2]GC[4]G[1], NC_000008.11:g.27525108GT[2]GC[5]G[1], NC_000008.11:g.27525108GT[2]GC[6]G[1], NC_000008.11:g.27525108GT[2]GC[7]G[1], NC_000008.11:g.27525108GT[3]GCG[1], NC_000008.11:g.27525108GT[3]GC[2]G[1], NC_000008.11:g.27525108GT[3]GC[3]G[1], NC_000008.11:g.27525108GT[3]GC[4]G[1], NC_000008.11:g.27525108GT[3]GC[5]G[1], NC_000008.11:g.27525108GT[3]GC[6]G[1], NC_000008.11:g.27525108GT[4]GCG[1], NC_000008.11:g.27525108GT[4]GC[2]G[1], NC_000008.11:g.27525108GT[4]GC[3]G[1], NC_000008.11:g.27525108GT[4]GC[4]G[1], NC_000008.11:g.27525108GT[4]GC[5]G[1], NC_000008.11:g.27525108GT[5]GCG[1], NC_000008.11:g.27525108GT[5]GC[2]G[1], NC_000008.11:g.27525108GT[5]GC[3]G[1], NC_000008.11:g.27525108GT[6]GCG[1], NC_000008.11:g.27525108GT[6]GC[4]G[1], NC_000008.11:g.27525108GT[7]GCG[1], NC_000008.11:g.27525108GT[7]GC[3]G[1], NC_000008.11:g.27525108GT[9]GCG[1], NC_000008.10:g.27382625_27382626insTGCG, NC_000008.10:g.27382625_27382626insTGCGCG, NC_000008.10:g.27382625_27382626insTGCGCGCG, NC_000008.10:g.27382625_27382626insTGCGCGCGCG, NC_000008.10:g.27382625_27382626insTGCGCGCGCGCG, NC_000008.10:g.27382625_27382626insTGCGCGCGCGCGCG, NC_000008.10:g.27382625GT[2]GCG[1], NC_000008.10:g.27382625GT[2]GC[2]G[1], NC_000008.10:g.27382625GT[2]GC[3]G[1], NC_000008.10:g.27382625GT[2]GC[4]G[1], NC_000008.10:g.27382625GT[2]GC[5]G[1], NC_000008.10:g.27382625GT[2]GC[6]G[1], NC_000008.10:g.27382625GT[2]GC[7]G[1], NC_000008.10:g.27382625GT[3]GCG[1], NC_000008.10:g.27382625GT[3]GC[2]G[1], NC_000008.10:g.27382625GT[3]GC[3]G[1], NC_000008.10:g.27382625GT[3]GC[4]G[1], NC_000008.10:g.27382625GT[3]GC[5]G[1], NC_000008.10:g.27382625GT[3]GC[6]G[1], NC_000008.10:g.27382625GT[4]GCG[1], NC_000008.10:g.27382625GT[4]GC[2]G[1], NC_000008.10:g.27382625GT[4]GC[3]G[1], NC_000008.10:g.27382625GT[4]GC[4]G[1], NC_000008.10:g.27382625GT[4]GC[5]G[1], NC_000008.10:g.27382625GT[5]GCG[1], NC_000008.10:g.27382625GT[5]GC[2]G[1], NC_000008.10:g.27382625GT[5]GC[3]G[1], NC_000008.10:g.27382625GT[6]GCG[1], NC_000008.10:g.27382625GT[6]GC[4]G[1], NC_000008.10:g.27382625GT[7]GCG[1], NC_000008.10:g.27382625GT[7]GC[3]G[1], NC_000008.10:g.27382625GT[9]GCG[1], NG_012064.1:g.38981_38982insTGCG, NG_012064.1:g.38981_38982insTGCGCG, NG_012064.1:g.38981_38982insTGCGCGCG, NG_012064.1:g.38981_38982insTGCGCGCGCG, NG_012064.1:g.38981_38982insTGCGCGCGCGCG, NG_012064.1:g.38981_38982insTGCGCGCGCGCGCG, NG_012064.1:g.38981GT[2]GCG[1], NG_012064.1:g.38981GT[2]GC[2]G[1], NG_012064.1:g.38981GT[2]GC[3]G[1], NG_012064.1:g.38981GT[2]GC[4]G[1], NG_012064.1:g.38981GT[2]GC[5]G[1], NG_012064.1:g.38981GT[2]GC[6]G[1], NG_012064.1:g.38981GT[2]GC[7]G[1], NG_012064.1:g.38981GT[3]GCG[1], NG_012064.1:g.38981GT[3]GC[2]G[1], NG_012064.1:g.38981GT[3]GC[3]G[1], NG_012064.1:g.38981GT[3]GC[4]G[1], NG_012064.1:g.38981GT[3]GC[5]G[1], NG_012064.1:g.38981GT[3]GC[6]G[1], NG_012064.1:g.38981GT[4]GCG[1], NG_012064.1:g.38981GT[4]GC[2]G[1], NG_012064.1:g.38981GT[4]GC[3]G[1], NG_012064.1:g.38981GT[4]GC[4]G[1], NG_012064.1:g.38981GT[4]GC[5]G[1], NG_012064.1:g.38981GT[5]GCG[1], NG_012064.1:g.38981GT[5]GC[2]G[1], NG_012064.1:g.38981GT[5]GC[3]G[1], NG_012064.1:g.38981GT[6]GCG[1], NG_012064.1:g.38981GT[6]GC[4]G[1], NG_012064.1:g.38981GT[7]GCG[1], NG_012064.1:g.38981GT[7]GC[3]G[1], NG_012064.1:g.38981GT[9]GCG[1]

        4.

        rs1491531106 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CG>- [Show Flanks]
          Chromosome:
          8:27596831 (GRCh38)
          8:27454348 (GRCh37)
          Canonical SPDI:
          NC_000008.11:27596829:GCG:G
          Gene:
          CLU (Varview), LOC124901919 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.00051/6 (ALFA)
          -=0.00088/14 (TOMMO)
          HGVS:

          5.

          rs1491528239 has merged into rs61276985 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CACACACACA>-,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
            Chromosome:
            8:27573604 (GRCh38)
            8:27431121 (GRCh37)
            Canonical SPDI:
            NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000008.11:27573589:CACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CACACACACACACACACACACA=0./0 (ALFA)
            CA=0.21386/1071 (1000Genomes)
            CA=0.375/3 (KOREAN)
            HGVS:

            6.

            rs1491526542 has merged into rs1157211401 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GGGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
              Chromosome:
              8:27596837 (GRCh38)
              8:27454354 (GRCh37)
              Canonical SPDI:
              NC_000008.11:27596831:GGGGGGGGGGGG:GGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000008.11:27596831:GGGGGGGGGGGG:GGGGGGGGGGGGGGG
              Gene:
              CLU (Varview), LOC124901919 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGGGGG=0./0 (ALFA)
              HGVS:
              NC_000008.11:g.27596837_27596843del, NC_000008.11:g.27596838_27596843del, NC_000008.11:g.27596839_27596843del, NC_000008.11:g.27596840_27596843del, NC_000008.11:g.27596841_27596843del, NC_000008.11:g.27596842_27596843del, NC_000008.11:g.27596843del, NC_000008.11:g.27596843dup, NC_000008.11:g.27596842_27596843dup, NC_000008.11:g.27596841_27596843dup, NC_000008.10:g.27454354_27454360del, NC_000008.10:g.27454355_27454360del, NC_000008.10:g.27454356_27454360del, NC_000008.10:g.27454357_27454360del, NC_000008.10:g.27454358_27454360del, NC_000008.10:g.27454359_27454360del, NC_000008.10:g.27454360del, NC_000008.10:g.27454360dup, NC_000008.10:g.27454359_27454360dup, NC_000008.10:g.27454358_27454360dup, NG_027845.1:g.22973_22979del, NG_027845.1:g.22974_22979del, NG_027845.1:g.22975_22979del, NG_027845.1:g.22976_22979del, NG_027845.1:g.22977_22979del, NG_027845.1:g.22978_22979del, NG_027845.1:g.22979del, NG_027845.1:g.22979dup, NG_027845.1:g.22978_22979dup, NG_027845.1:g.22977_22979dup

              7.

              rs1491486092 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                8:27501380 (GRCh38)
                8:27358898 (GRCh37)
                Canonical SPDI:
                NC_000008.11:27501380:C:CC
                Gene:
                EPHX2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CC=0./0 (ALFA)
                C=0.003845/404 (GnomAD)
                HGVS:

                8.

                rs1491481189 has merged into rs55763328 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CACACACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                  Chromosome:
                  8:27490721 (GRCh38)
                  8:27348238 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27490699:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                  Gene:
                  EPHX2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACACACACACACACACACACACA=0./0 (ALFA)
                  -=0.1098/423 (ALSPAC)
                  ACACACAC=0.1414/708 (1000Genomes)
                  AC=0.5/20 (GENOME_DK)
                  HGVS:
                  NC_000008.11:g.27490701CA[10], NC_000008.11:g.27490701CA[11], NC_000008.11:g.27490701CA[12], NC_000008.11:g.27490701CA[13], NC_000008.11:g.27490701CA[14], NC_000008.11:g.27490701CA[15], NC_000008.11:g.27490701CA[16], NC_000008.11:g.27490701CA[17], NC_000008.11:g.27490701CA[18], NC_000008.11:g.27490701CA[19], NC_000008.11:g.27490701CA[20], NC_000008.11:g.27490701CA[21], NC_000008.11:g.27490701CA[22], NC_000008.11:g.27490701CA[23], NC_000008.11:g.27490701CA[24], NC_000008.11:g.27490701CA[25], NC_000008.11:g.27490701CA[26], NC_000008.11:g.27490701CA[28], NC_000008.11:g.27490701CA[29], NC_000008.11:g.27490701CA[30], NC_000008.11:g.27490701CA[31], NC_000008.11:g.27490701CA[32], NC_000008.11:g.27490701CA[33], NC_000008.11:g.27490701CA[34], NC_000008.11:g.27490701CA[36], NC_000008.10:g.27348218CA[10], NC_000008.10:g.27348218CA[11], NC_000008.10:g.27348218CA[12], NC_000008.10:g.27348218CA[13], NC_000008.10:g.27348218CA[14], NC_000008.10:g.27348218CA[15], NC_000008.10:g.27348218CA[16], NC_000008.10:g.27348218CA[17], NC_000008.10:g.27348218CA[18], NC_000008.10:g.27348218CA[19], NC_000008.10:g.27348218CA[20], NC_000008.10:g.27348218CA[21], NC_000008.10:g.27348218CA[22], NC_000008.10:g.27348218CA[23], NC_000008.10:g.27348218CA[24], NC_000008.10:g.27348218CA[25], NC_000008.10:g.27348218CA[26], NC_000008.10:g.27348218CA[28], NC_000008.10:g.27348218CA[29], NC_000008.10:g.27348218CA[30], NC_000008.10:g.27348218CA[31], NC_000008.10:g.27348218CA[32], NC_000008.10:g.27348218CA[33], NC_000008.10:g.27348218CA[34], NC_000008.10:g.27348218CA[36], NG_012064.1:g.4574CA[10], NG_012064.1:g.4574CA[11], NG_012064.1:g.4574CA[12], NG_012064.1:g.4574CA[13], NG_012064.1:g.4574CA[14], NG_012064.1:g.4574CA[15], NG_012064.1:g.4574CA[16], NG_012064.1:g.4574CA[17], NG_012064.1:g.4574CA[18], NG_012064.1:g.4574CA[19], NG_012064.1:g.4574CA[20], NG_012064.1:g.4574CA[21], NG_012064.1:g.4574CA[22], NG_012064.1:g.4574CA[23], NG_012064.1:g.4574CA[24], NG_012064.1:g.4574CA[25], NG_012064.1:g.4574CA[26], NG_012064.1:g.4574CA[28], NG_012064.1:g.4574CA[29], NG_012064.1:g.4574CA[30], NG_012064.1:g.4574CA[31], NG_012064.1:g.4574CA[32], NG_012064.1:g.4574CA[33], NG_012064.1:g.4574CA[34], NG_012064.1:g.4574CA[36]

                  9.

                  rs1491458280 has merged into rs34619047 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    8:27530077 (GRCh38)
                    8:27387594 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:27530067:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    EPHX2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTT=0./0 (ALFA)
                    -=0.09699/58 (NorthernSweden)
                    -=0.15957/615 (ALSPAC)
                    -=0.17503/649 (TWINSUK)
                    -=0.25/10 (GENOME_DK)
                    -=0.27751/4651 (TOMMO)
                    -=0.36302/1818 (1000Genomes)
                    HGVS:
                    NC_000008.11:g.27530077_27530080del, NC_000008.11:g.27530078_27530080del, NC_000008.11:g.27530079_27530080del, NC_000008.11:g.27530080del, NC_000008.11:g.27530080dup, NC_000008.11:g.27530079_27530080dup, NC_000008.11:g.27530078_27530080dup, NC_000008.11:g.27530077_27530080dup, NC_000008.11:g.27530074_27530080dup, NC_000008.11:g.27530069_27530080dup, NC_000008.10:g.27387594_27387597del, NC_000008.10:g.27387595_27387597del, NC_000008.10:g.27387596_27387597del, NC_000008.10:g.27387597del, NC_000008.10:g.27387597dup, NC_000008.10:g.27387596_27387597dup, NC_000008.10:g.27387595_27387597dup, NC_000008.10:g.27387594_27387597dup, NC_000008.10:g.27387591_27387597dup, NC_000008.10:g.27387586_27387597dup, NG_012064.1:g.43950_43953del, NG_012064.1:g.43951_43953del, NG_012064.1:g.43952_43953del, NG_012064.1:g.43953del, NG_012064.1:g.43953dup, NG_012064.1:g.43952_43953dup, NG_012064.1:g.43951_43953dup, NG_012064.1:g.43950_43953dup, NG_012064.1:g.43947_43953dup, NG_012064.1:g.43942_43953dup

                    10.

                    rs1491455479 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CG [Show Flanks]
                      Chromosome:
                      8:27525069 (GRCh38)
                      8:27382587 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:27525069:G:GCG
                      Gene:
                      EPHX2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GCG=0./0 (ALFA)
                      GC=0.00049/6 (GnomAD)
                      HGVS:

                      11.

                      rs1491447425 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        8:27501381 (GRCh38)
                        8:27358898 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:27501379:TCT:T
                        Gene:
                        EPHX2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        -=0.00001/1 (GnomAD)
                        -=0.000213/6 (TOMMO)
                        HGVS:

                        12.

                        rs1491409976 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          8:27501390 (GRCh38)
                          8:27358907 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:27501388:TCT:T
                          Gene:
                          EPHX2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          -=0.00025/7 (TOMMO)
                          HGVS:

                          13.

                          rs1491405961 has merged into rs56963159 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                            Chromosome:
                            8:27525089 (GRCh38)
                            8:27382606 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000008.11:27525068:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                            Gene:
                            EPHX2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
                            -=0.2073/799 (ALSPAC)
                            HGVS:
                            NC_000008.11:g.27525069TG[10], NC_000008.11:g.27525069TG[11], NC_000008.11:g.27525069TG[12], NC_000008.11:g.27525069TG[13], NC_000008.11:g.27525069TG[14], NC_000008.11:g.27525069TG[15], NC_000008.11:g.27525069TG[16], NC_000008.11:g.27525069TG[17], NC_000008.11:g.27525069TG[18], NC_000008.11:g.27525069TG[19], NC_000008.11:g.27525069TG[21], NC_000008.11:g.27525069TG[22], NC_000008.11:g.27525069TG[23], NC_000008.11:g.27525069TG[24], NC_000008.11:g.27525069TG[25], NC_000008.11:g.27525069TG[26], NC_000008.11:g.27525069TG[27], NC_000008.11:g.27525069TG[28], NC_000008.10:g.27382586TG[10], NC_000008.10:g.27382586TG[11], NC_000008.10:g.27382586TG[12], NC_000008.10:g.27382586TG[13], NC_000008.10:g.27382586TG[14], NC_000008.10:g.27382586TG[15], NC_000008.10:g.27382586TG[16], NC_000008.10:g.27382586TG[17], NC_000008.10:g.27382586TG[18], NC_000008.10:g.27382586TG[19], NC_000008.10:g.27382586TG[21], NC_000008.10:g.27382586TG[22], NC_000008.10:g.27382586TG[23], NC_000008.10:g.27382586TG[24], NC_000008.10:g.27382586TG[25], NC_000008.10:g.27382586TG[26], NC_000008.10:g.27382586TG[27], NC_000008.10:g.27382586TG[28], NG_012064.1:g.38942TG[10], NG_012064.1:g.38942TG[11], NG_012064.1:g.38942TG[12], NG_012064.1:g.38942TG[13], NG_012064.1:g.38942TG[14], NG_012064.1:g.38942TG[15], NG_012064.1:g.38942TG[16], NG_012064.1:g.38942TG[17], NG_012064.1:g.38942TG[18], NG_012064.1:g.38942TG[19], NG_012064.1:g.38942TG[21], NG_012064.1:g.38942TG[22], NG_012064.1:g.38942TG[23], NG_012064.1:g.38942TG[24], NG_012064.1:g.38942TG[25], NG_012064.1:g.38942TG[26], NG_012064.1:g.38942TG[27], NG_012064.1:g.38942TG[28]

                            14.

                            rs1491401130 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              8:27501368 (GRCh38)
                              8:27358886 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:27501368:C:CC
                              Gene:
                              EPHX2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CC=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1491329976 has merged into rs56851108 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                8:27529893 (GRCh38)
                                8:27387410 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:27529889:AAAAAAAAAAAAAA:AAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:27529889:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                                Gene:
                                EPHX2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAA=0./0 (ALFA)
                                -=0.0914/47 (NorthernSweden)
                                -=0.225/9 (GENOME_DK)
                                HGVS:

                                16.

                                rs1491309750 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->CGGG [Show Flanks]
                                  Chromosome:
                                  8:27596825 (GRCh38)
                                  8:27454343 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:27596825:GGG:GGGCGGG
                                  Gene:
                                  CLU (Varview), LOC124901919 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  GGGC=0.00008/5 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491295831 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AT>- [Show Flanks]
                                    Chromosome:
                                    8:27547799 (GRCh38)
                                    8:27405316 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:27547798:AT:
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491289641 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CT>- [Show Flanks]
                                      Chromosome:
                                      8:27501387 (GRCh38)
                                      8:27358904 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:27501385:TCT:T
                                      Gene:
                                      EPHX2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.04316/512 (ALFA)
                                      -=0.00114/19 (TOMMO)
                                      -=0.00175/1 (NorthernSweden)
                                      -=0.00453/362 (GnomAD)
                                      -=0.09574/355 (TWINSUK)
                                      -=0.0999/385 (ALSPAC)
                                      HGVS:

                                      19.

                                      rs1491278528 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GCACAC [Show Flanks]
                                        Chromosome:
                                        8:27490700 (GRCh38)
                                        8:27348218 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:27490700:CACAC:CACACGCACAC
                                        Gene:
                                        EPHX2 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CACACGCACAC=0./0 (ALFA)
                                        CACACG=0.000004/1 (TOPMED)
                                        CACACG=0.001245/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491255780 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->TA
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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