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Items: 1 to 20 of 1000

1.

rs1491586983 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->CA
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491583059 has merged into rs59970877 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
      Chromosome:
      11:43810378 (GRCh38)
      11:43831928 (GRCh37)
      Canonical SPDI:
      NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:43810367:TATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
      Gene:
      HSD17B12 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATATA=0./0 (ALFA)
      HGVS:
      NC_000011.10:g.43810368TA[5], NC_000011.10:g.43810368TA[6], NC_000011.10:g.43810368TA[7], NC_000011.10:g.43810368TA[8], NC_000011.10:g.43810368TA[9], NC_000011.10:g.43810368TA[10], NC_000011.10:g.43810368TA[11], NC_000011.10:g.43810368TA[12], NC_000011.10:g.43810368TA[13], NC_000011.10:g.43810368TA[14], NC_000011.10:g.43810368TA[15], NC_000011.10:g.43810368TA[16], NC_000011.10:g.43810368TA[17], NC_000011.10:g.43810368TA[19], NC_000011.10:g.43810368TA[20], NC_000011.10:g.43810368TA[21], NC_000011.10:g.43810368TA[22], NC_000011.10:g.43810368TA[23], NC_000011.10:g.43810368TA[24], NC_000011.10:g.43810368TA[25], NC_000011.10:g.43810368TA[26], NC_000011.10:g.43810368TA[27], NC_000011.10:g.43810368TA[28], NC_000011.10:g.43810368TA[29], NC_000011.10:g.43810368TA[30], NC_000011.10:g.43810368TA[31], NC_000011.10:g.43810368TA[32], NC_000011.9:g.43831918TA[5], NC_000011.9:g.43831918TA[6], NC_000011.9:g.43831918TA[7], NC_000011.9:g.43831918TA[8], NC_000011.9:g.43831918TA[9], NC_000011.9:g.43831918TA[10], NC_000011.9:g.43831918TA[11], NC_000011.9:g.43831918TA[12], NC_000011.9:g.43831918TA[13], NC_000011.9:g.43831918TA[14], NC_000011.9:g.43831918TA[15], NC_000011.9:g.43831918TA[16], NC_000011.9:g.43831918TA[17], NC_000011.9:g.43831918TA[19], NC_000011.9:g.43831918TA[20], NC_000011.9:g.43831918TA[21], NC_000011.9:g.43831918TA[22], NC_000011.9:g.43831918TA[23], NC_000011.9:g.43831918TA[24], NC_000011.9:g.43831918TA[25], NC_000011.9:g.43831918TA[26], NC_000011.9:g.43831918TA[27], NC_000011.9:g.43831918TA[28], NC_000011.9:g.43831918TA[29], NC_000011.9:g.43831918TA[30], NC_000011.9:g.43831918TA[31], NC_000011.9:g.43831918TA[32]

      3.

      rs1491578238 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->CTTT
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491536831 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          11:43738056 (GRCh38)
          11:43759606 (GRCh37)
          Canonical SPDI:
          NC_000011.10:43738055:CA:
          Gene:
          HSD17B12 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00025/3 (ALFA)
          HGVS:

          5.

          rs1491529613 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AC [Show Flanks]
            Chromosome:
            11:43719643 (GRCh38)
            11:43741194 (GRCh37)
            Canonical SPDI:
            NC_000011.10:43719643:AC:ACAC
            Gene:
            HSD17B12 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            ACAC=0./0 (ALFA)
            AC=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491502316 has merged into rs71308376 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TGTTTGTT>-,TGTT,TGTTTGTTTGTT,TGTTTGTTTGTTTGTT,TGTTTGTTTGTTTGTTTGTT,TGTTTGTTTGTTTGTTTGTTTGTT,TGTTTGTTTGTTTGTTTGTTTGTTTGTT [Show Flanks]
              Chromosome:
              11:43844999 (GRCh38)
              11:43866549 (GRCh37)
              Canonical SPDI:
              NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTT,NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTTTGTT,NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTT,NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTT,NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTT,NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTT,NC_000011.10:43844981:TTGTTTGTTTGTTTGTTTGTTTGTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTT
              Gene:
              HSD17B12 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTGTTTGTTTGTTTGTTTGTT=0./0 (ALFA)
              -=0.07143/229 (1000Genomes)
              TTGT=0.39333/236 (NorthernSweden)
              TTGT=0.39881/1537 (ALSPAC)
              TTGT=0.40965/1519 (TWINSUK)
              TTGT=0.425/17 (GENOME_DK)
              HGVS:

              7.

              rs1491487670 has merged into rs398045163 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
                Chromosome:
                11:43767215 (GRCh38)
                11:43788765 (GRCh37)
                Canonical SPDI:
                NC_000011.10:43767204:AAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:43767204:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:43767204:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:43767204:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:43767204:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
                Gene:
                HSD17B12 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                A=0.347244/1739 (1000Genomes)
                A=0.383333/230 (NorthernSweden)
                A=0.4/16 (GENOME_DK)
                A=0.408147/1573 (ALSPAC)
                A=0.417745/1549 (TWINSUK)
                HGVS:

                8.

                rs1491484929 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TC>- [Show Flanks]
                  Chromosome:
                  11:43686612 (GRCh38)
                  11:43708162 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:43686611:TC:
                  Gene:
                  HSD17B12 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1491458865 has merged into rs749195210 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    11:43847726 (GRCh38)
                    11:43869276 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43847715:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    HSD17B12 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000011.10:g.43847726_43847733del, NC_000011.10:g.43847728_43847733del, NC_000011.10:g.43847729_43847733del, NC_000011.10:g.43847730_43847733del, NC_000011.10:g.43847731_43847733del, NC_000011.10:g.43847732_43847733del, NC_000011.10:g.43847733del, NC_000011.10:g.43847733dup, NC_000011.10:g.43847732_43847733dup, NC_000011.10:g.43847731_43847733dup, NC_000011.10:g.43847730_43847733dup, NC_000011.10:g.43847729_43847733dup, NC_000011.10:g.43847728_43847733dup, NC_000011.10:g.43847727_43847733dup, NC_000011.10:g.43847726_43847733dup, NC_000011.10:g.43847725_43847733dup, NC_000011.10:g.43847724_43847733dup, NC_000011.10:g.43847723_43847733dup, NC_000011.10:g.43847722_43847733dup, NC_000011.10:g.43847721_43847733dup, NC_000011.10:g.43847720_43847733dup, NC_000011.10:g.43847719_43847733dup, NC_000011.10:g.43847718_43847733dup, NC_000011.10:g.43847717_43847733dup, NC_000011.10:g.43847716_43847733dup, NC_000011.10:g.43847733_43847734insAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.43847733_43847734insAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.43847733_43847734insAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43869276_43869283del, NC_000011.9:g.43869278_43869283del, NC_000011.9:g.43869279_43869283del, NC_000011.9:g.43869280_43869283del, NC_000011.9:g.43869281_43869283del, NC_000011.9:g.43869282_43869283del, NC_000011.9:g.43869283del, NC_000011.9:g.43869283dup, NC_000011.9:g.43869282_43869283dup, NC_000011.9:g.43869281_43869283dup, NC_000011.9:g.43869280_43869283dup, NC_000011.9:g.43869279_43869283dup, NC_000011.9:g.43869278_43869283dup, NC_000011.9:g.43869277_43869283dup, NC_000011.9:g.43869276_43869283dup, NC_000011.9:g.43869275_43869283dup, NC_000011.9:g.43869274_43869283dup, NC_000011.9:g.43869273_43869283dup, NC_000011.9:g.43869272_43869283dup, NC_000011.9:g.43869271_43869283dup, NC_000011.9:g.43869270_43869283dup, NC_000011.9:g.43869269_43869283dup, NC_000011.9:g.43869268_43869283dup, NC_000011.9:g.43869267_43869283dup, NC_000011.9:g.43869266_43869283dup, NC_000011.9:g.43869283_43869284insAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43869283_43869284insAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43869283_43869284insAAAAAAAAAAAAAAAAAAAAA

                    10.

                    rs1491444580 has merged into rs1036856775 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>-,GG [Show Flanks]
                      Chromosome:
                      11:43823060 (GRCh38)
                      11:43844610 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:43823059:GGGGGGG:GGGGGG,NC_000011.10:43823059:GGGGGGG:GGGGGGGG
                      Gene:
                      HSD17B12 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GGGGGGGG=0.000432/8 (ALFA)
                      -=0.000019/5 (TOPMED)
                      -=0.001667/1 (NorthernSweden)
                      HGVS:

                      11.

                      rs1491428140 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        11:43739702 (GRCh38)
                        11:43761252 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:43739701:AA:
                        Gene:
                        HSD17B12 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.014/52 (TWINSUK)
                        -=0.0145/56 (ALSPAC)
                        HGVS:

                        12.

                        rs1491426134 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->TG [Show Flanks]
                          Chromosome:
                          11:43763602 (GRCh38)
                          11:43785153 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:43763602::TG
                          Gene:
                          HSD17B12 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TG=0./0 (ALFA)
                          TG=0.000015/2 (GnomAD)
                          HGVS:

                          13.

                          rs1491418889 has merged into rs55938101 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            11:43682557 (GRCh38)
                            11:43704107 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43682544:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            HSD17B12 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAA=0./0 (ALFA)
                            AAA=0.0457/229 (1000Genomes)
                            HGVS:
                            NC_000011.10:g.43682557_43682566del, NC_000011.10:g.43682558_43682566del, NC_000011.10:g.43682561_43682566del, NC_000011.10:g.43682562_43682566del, NC_000011.10:g.43682563_43682566del, NC_000011.10:g.43682564_43682566del, NC_000011.10:g.43682565_43682566del, NC_000011.10:g.43682566del, NC_000011.10:g.43682566dup, NC_000011.10:g.43682565_43682566dup, NC_000011.10:g.43682564_43682566dup, NC_000011.10:g.43682562_43682566dup, NC_000011.10:g.43682559_43682566dup, NC_000011.10:g.43682558_43682566dup, NC_000011.10:g.43682556_43682566dup, NC_000011.10:g.43682552_43682566dup, NC_000011.10:g.43682551_43682566dup, NC_000011.10:g.43682550_43682566dup, NC_000011.10:g.43682549_43682566dup, NC_000011.10:g.43682548_43682566dup, NC_000011.10:g.43682547_43682566dup, NC_000011.10:g.43682546_43682566dup, NC_000011.10:g.43682545_43682566dup, NC_000011.10:g.43682566_43682567insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.43682566_43682567insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.43682566_43682567insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.43682566_43682567insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43704107_43704116del, NC_000011.9:g.43704108_43704116del, NC_000011.9:g.43704111_43704116del, NC_000011.9:g.43704112_43704116del, NC_000011.9:g.43704113_43704116del, NC_000011.9:g.43704114_43704116del, NC_000011.9:g.43704115_43704116del, NC_000011.9:g.43704116del, NC_000011.9:g.43704116dup, NC_000011.9:g.43704115_43704116dup, NC_000011.9:g.43704114_43704116dup, NC_000011.9:g.43704112_43704116dup, NC_000011.9:g.43704109_43704116dup, NC_000011.9:g.43704108_43704116dup, NC_000011.9:g.43704106_43704116dup, NC_000011.9:g.43704102_43704116dup, NC_000011.9:g.43704101_43704116dup, NC_000011.9:g.43704100_43704116dup, NC_000011.9:g.43704099_43704116dup, NC_000011.9:g.43704098_43704116dup, NC_000011.9:g.43704097_43704116dup, NC_000011.9:g.43704096_43704116dup, NC_000011.9:g.43704095_43704116dup, NC_000011.9:g.43704116_43704117insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43704116_43704117insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43704116_43704117insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.43704116_43704117insAAAAAAAAAAAAAAAAAAAAAAAAAA

                            14.

                            rs1491385956 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TTA [Show Flanks]
                              Chromosome:
                              11:43810368 (GRCh38)
                              11:43831919 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:43810368::TTA
                              Gene:
                              HSD17B12 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TTA=0./0 (ALFA)
                              TTA=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1491376088 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->GA,GATATAGA [Show Flanks]
                                Chromosome:
                                11:43817017 (GRCh38)
                                11:43838568 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:43817017:A:AGA,NC_000011.10:43817017:A:AGATATAGA
                                Gene:
                                HSD17B12 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGATATAGA=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491360237 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  11:43763611 (GRCh38)
                                  11:43785161 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:43763610:TT:
                                  Gene:
                                  HSD17B12 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0.000084/1 (ALFA)
                                  -=0.000017/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491326552 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    11:43682512 (GRCh38)
                                    11:43704063 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:43682512::G
                                    Gene:
                                    HSD17B12 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.00537/172 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491305169 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AT>- [Show Flanks]
                                      Chromosome:
                                      11:43771459 (GRCh38)
                                      11:43793009 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:43771456:ATAT:AT
                                      Gene:
                                      HSD17B12 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      ATAT=0./0 (ALFA)
                                      -=0.000016/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1491248015 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AT>- [Show Flanks]
                                        Chromosome:
                                        11:43682512 (GRCh38)
                                        11:43704062 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:43682511:AT:
                                        Gene:
                                        HSD17B12 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1491218404 has merged into rs1483103427 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ATAT>-,AT,ATATAT [Show Flanks]
                                          Chromosome:
                                          11:43817018 (GRCh38)
                                          11:43838568 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:43817016:TATAT:T,NC_000011.10:43817016:TATAT:TAT,NC_000011.10:43817016:TATAT:TATATAT
                                          Gene:
                                          HSD17B12 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TAT=0./0 (ALFA)
                                          -=0.0012/20 (TOMMO)
                                          HGVS:

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