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1.

rs1491494617 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    3:197510596 (GRCh38)
    3:197237467 (GRCh37)
    Canonical SPDI:
    NC_000003.12:197510595:AG:
    Gene:
    BDH1 (Varview), LINC02012 (Varview)
    Functional Consequence:
    upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:

    2.

    rs1491375721 has merged into rs35012311 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
      Chromosome:
      3:197510599 (GRCh38)
      3:197237470 (GRCh37)
      Canonical SPDI:
      NC_000003.12:197510596:GGGG:GG,NC_000003.12:197510596:GGGG:GGG,NC_000003.12:197510596:GGGG:GGGGG,NC_000003.12:197510596:GGGG:GGGGGG,NC_000003.12:197510596:GGGG:GGGGGGG,NC_000003.12:197510596:GGGG:GGGGGGGG,NC_000003.12:197510596:GGGG:GGGGGGGGG,NC_000003.12:197510596:GGGG:GGGGGGGGGG
      Gene:
      BDH1 (Varview), LINC02012 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGG=0./0 (ALFA)
      -=0.00833/5 (NorthernSweden)
      HGVS:
      NC_000003.12:g.197510599_197510600del, NC_000003.12:g.197510600del, NC_000003.12:g.197510600dup, NC_000003.12:g.197510599_197510600dup, NC_000003.12:g.197510598_197510600dup, NC_000003.12:g.197510597_197510600dup, NC_000003.12:g.197510600_197510601insGGGGG, NC_000003.12:g.197510600_197510601insGGGGGG, NC_000003.11:g.197237470_197237471del, NC_000003.11:g.197237471del, NC_000003.11:g.197237471dup, NC_000003.11:g.197237470_197237471dup, NC_000003.11:g.197237469_197237471dup, NC_000003.11:g.197237468_197237471dup, NC_000003.11:g.197237471_197237472insGGGGG, NC_000003.11:g.197237471_197237472insGGGGGG, NT_187534.1:g.48285_48286del, NT_187534.1:g.48286del, NT_187534.1:g.48286dup, NT_187534.1:g.48285_48286dup, NT_187534.1:g.48284_48286dup, NT_187534.1:g.48283_48286dup, NT_187534.1:g.48286_48287insCCCCC, NT_187534.1:g.48286_48287insCCCCCC, NM_004051.5:c.*1297_*1298del, NM_004051.5:c.*1298del, NM_004051.5:c.*1298dup, NM_004051.5:c.*1297_*1298dup, NM_004051.5:c.*1296_*1298dup, NM_004051.5:c.*1295_*1298dup, NM_004051.5:c.*1298_*1299insCCCCC, NM_004051.5:c.*1298_*1299insCCCCCC, NM_004051.4:c.*1297_*1298del, NM_004051.4:c.*1298del, NM_004051.4:c.*1298dup, NM_004051.4:c.*1297_*1298dup, NM_004051.4:c.*1296_*1298dup, NM_004051.4:c.*1295_*1298dup, NM_004051.4:c.*1298_*1299insCCCCC, NM_004051.4:c.*1298_*1299insCCCCCC, XM_011513067.4:c.*1297_*1298del, XM_011513067.4:c.*1298del, XM_011513067.4:c.*1298dup, XM_011513067.4:c.*1297_*1298dup, XM_011513067.4:c.*1296_*1298dup, XM_011513067.4:c.*1295_*1298dup, XM_011513067.4:c.*1298_*1299insCCCCC, XM_011513067.4:c.*1298_*1299insCCCCCC, XM_011513067.2:c.*1297_*1298del, XM_011513067.2:c.*1298del, XM_011513067.2:c.*1298dup, XM_011513067.2:c.*1297_*1298dup, XM_011513067.2:c.*1296_*1298dup, XM_011513067.2:c.*1295_*1298dup, XM_011513067.2:c.*1298_*1299insCCCCC, XM_011513067.2:c.*1298_*1299insCCCCCC, XM_011513067.1:c.*1297_*1298del, XM_011513067.1:c.*1298del, XM_011513067.1:c.*1298dup, XM_011513067.1:c.*1297_*1298dup, XM_011513067.1:c.*1296_*1298dup, XM_011513067.1:c.*1295_*1298dup, XM_011513067.1:c.*1298_*1299insCCCCC, XM_011513067.1:c.*1298_*1299insCCCCCC, XM_005269352.4:c.*1297_*1298del, XM_005269352.4:c.*1298del, XM_005269352.4:c.*1298dup, XM_005269352.4:c.*1297_*1298dup, XM_005269352.4:c.*1296_*1298dup, XM_005269352.4:c.*1295_*1298dup, XM_005269352.4:c.*1298_*1299insCCCCC, XM_005269352.4:c.*1298_*1299insCCCCCC, XM_005269352.3:c.*1297_*1298del, XM_005269352.3:c.*1298del, XM_005269352.3:c.*1298dup, XM_005269352.3:c.*1297_*1298dup, XM_005269352.3:c.*1296_*1298dup, XM_005269352.3:c.*1295_*1298dup, XM_005269352.3:c.*1298_*1299insCCCCC, XM_005269352.3:c.*1298_*1299insCCCCCC, XM_005269352.2:c.*1297_*1298del, XM_005269352.2:c.*1298del, XM_005269352.2:c.*1298dup, XM_005269352.2:c.*1297_*1298dup, XM_005269352.2:c.*1296_*1298dup, XM_005269352.2:c.*1295_*1298dup, XM_005269352.2:c.*1298_*1299insCCCCC, XM_005269352.2:c.*1298_*1299insCCCCCC, NM_203314.3:c.*1297_*1298del, NM_203314.3:c.*1298del, NM_203314.3:c.*1298dup, NM_203314.3:c.*1297_*1298dup, NM_203314.3:c.*1296_*1298dup, NM_203314.3:c.*1295_*1298dup, NM_203314.3:c.*1298_*1299insCCCCC, NM_203314.3:c.*1298_*1299insCCCCCC, NM_203314.2:c.*1297_*1298del, NM_203314.2:c.*1298del, NM_203314.2:c.*1298dup, NM_203314.2:c.*1297_*1298dup, NM_203314.2:c.*1296_*1298dup, NM_203314.2:c.*1295_*1298dup, NM_203314.2:c.*1298_*1299insCCCCC, NM_203314.2:c.*1298_*1299insCCCCCC, NM_203315.3:c.*1297_*1298del, NM_203315.3:c.*1298del, NM_203315.3:c.*1298dup, NM_203315.3:c.*1297_*1298dup, NM_203315.3:c.*1296_*1298dup, NM_203315.3:c.*1295_*1298dup, NM_203315.3:c.*1298_*1299insCCCCC, NM_203315.3:c.*1298_*1299insCCCCCC, NM_203315.2:c.*1297_*1298del, NM_203315.2:c.*1298del, NM_203315.2:c.*1298dup, NM_203315.2:c.*1297_*1298dup, NM_203315.2:c.*1296_*1298dup, NM_203315.2:c.*1295_*1298dup, NM_203315.2:c.*1298_*1299insCCCCC, NM_203315.2:c.*1298_*1299insCCCCCC, XM_017007015.2:c.*1297_*1298del, XM_017007015.2:c.*1298del, XM_017007015.2:c.*1298dup, XM_017007015.2:c.*1297_*1298dup, XM_017007015.2:c.*1296_*1298dup, XM_017007015.2:c.*1295_*1298dup, XM_017007015.2:c.*1298_*1299insCCCCC, XM_017007015.2:c.*1298_*1299insCCCCCC, XM_017007015.1:c.*1297_*1298del, XM_017007015.1:c.*1298del, XM_017007015.1:c.*1298dup, XM_017007015.1:c.*1297_*1298dup, XM_017007015.1:c.*1296_*1298dup, XM_017007015.1:c.*1295_*1298dup, XM_017007015.1:c.*1298_*1299insCCCCC, XM_017007015.1:c.*1298_*1299insCCCCCC, XM_047448679.1:c.*1297_*1298del, XM_047448679.1:c.*1298del, XM_047448679.1:c.*1298dup, XM_047448679.1:c.*1297_*1298dup, XM_047448679.1:c.*1296_*1298dup, XM_047448679.1:c.*1295_*1298dup, XM_047448679.1:c.*1298_*1299insCCCCC, XM_047448679.1:c.*1298_*1299insCCCCCC, XM_047448681.1:c.*1297_*1298del, XM_047448681.1:c.*1298del, XM_047448681.1:c.*1298dup, XM_047448681.1:c.*1297_*1298dup, XM_047448681.1:c.*1296_*1298dup, XM_047448681.1:c.*1295_*1298dup, XM_047448681.1:c.*1298_*1299insCCCCC, XM_047448681.1:c.*1298_*1299insCCCCCC, XM_047448682.1:c.*1297_*1298del, XM_047448682.1:c.*1298del, XM_047448682.1:c.*1298dup, XM_047448682.1:c.*1297_*1298dup, XM_047448682.1:c.*1296_*1298dup, XM_047448682.1:c.*1295_*1298dup, XM_047448682.1:c.*1298_*1299insCCCCC, XM_047448682.1:c.*1298_*1299insCCCCCC, XM_047448680.1:c.*1297_*1298del, XM_047448680.1:c.*1298del, XM_047448680.1:c.*1298dup, XM_047448680.1:c.*1297_*1298dup, XM_047448680.1:c.*1296_*1298dup, XM_047448680.1:c.*1295_*1298dup, XM_047448680.1:c.*1298_*1299insCCCCC, XM_047448680.1:c.*1298_*1299insCCCCCC

      3.

      rs1490533904 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:197506686 (GRCh38)
        3:197233557 (GRCh37)
        Canonical SPDI:
        NC_000003.12:197506685:G:A
        Gene:
        LINC02012 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1490335181 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:197510464 (GRCh38)
          3:197237335 (GRCh37)
          Canonical SPDI:
          NC_000003.12:197510463:G:A
          Gene:
          BDH1 (Varview), LINC02012 (Varview)
          Functional Consequence:
          upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:

          5.

          rs1490269155 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:197508326 (GRCh38)
            3:197235197 (GRCh37)
            Canonical SPDI:
            NC_000003.12:197508325:C:T
            Gene:
            LINC02012 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1490234923 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:197506668 (GRCh38)
              3:197233539 (GRCh37)
              Canonical SPDI:
              NC_000003.12:197506667:G:A
              Gene:
              LINC02012 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:

              7.

              rs1489354188 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:197505120 (GRCh38)
                3:197231991 (GRCh37)
                Canonical SPDI:
                NC_000003.12:197505119:T:C
                Gene:
                LINC02012 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1489022982 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:197511123 (GRCh38)
                  3:197237994 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:197511122:A:G
                  Gene:
                  BDH1 (Varview), LINC02012 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1488878774 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:197507716 (GRCh38)
                    3:197234587 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:197507715:T:C
                    Gene:
                    LINC02012 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    C=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1488690866 has merged into rs57389278 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                      Chromosome:
                      3:197510699 (GRCh38)
                      3:197237570 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197510684:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                      Gene:
                      BDH1 (Varview), LINC02012 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GTGTGTGTGTGTGTGT=0./0 (ALFA)
                      HGVS:
                      NC_000003.12:g.197510685GT[7], NC_000003.12:g.197510685GT[8], NC_000003.12:g.197510685GT[9], NC_000003.12:g.197510685GT[10], NC_000003.12:g.197510685GT[11], NC_000003.12:g.197510685GT[12], NC_000003.12:g.197510685GT[13], NC_000003.12:g.197510685GT[14], NC_000003.12:g.197510685GT[15], NC_000003.12:g.197510685GT[16], NC_000003.12:g.197510685GT[18], NC_000003.12:g.197510685GT[19], NC_000003.12:g.197510685GT[20], NC_000003.12:g.197510685GT[21], NC_000003.12:g.197510685GT[22], NC_000003.12:g.197510685GT[23], NC_000003.12:g.197510685GT[24], NC_000003.11:g.197237556GT[7], NC_000003.11:g.197237556GT[8], NC_000003.11:g.197237556GT[9], NC_000003.11:g.197237556GT[10], NC_000003.11:g.197237556GT[11], NC_000003.11:g.197237556GT[12], NC_000003.11:g.197237556GT[13], NC_000003.11:g.197237556GT[14], NC_000003.11:g.197237556GT[15], NC_000003.11:g.197237556GT[16], NC_000003.11:g.197237556GT[18], NC_000003.11:g.197237556GT[19], NC_000003.11:g.197237556GT[20], NC_000003.11:g.197237556GT[21], NC_000003.11:g.197237556GT[22], NC_000003.11:g.197237556GT[23], NC_000003.11:g.197237556GT[24], NT_187534.1:g.48165AC[7], NT_187534.1:g.48165AC[8], NT_187534.1:g.48165AC[9], NT_187534.1:g.48165AC[10], NT_187534.1:g.48165AC[11], NT_187534.1:g.48165AC[12], NT_187534.1:g.48165AC[13], NT_187534.1:g.48165AC[14], NT_187534.1:g.48165AC[15], NT_187534.1:g.48165AC[16], NT_187534.1:g.48165AC[18], NT_187534.1:g.48165AC[19], NT_187534.1:g.48165AC[20], NT_187534.1:g.48165AC[21], NT_187534.1:g.48165AC[22], NT_187534.1:g.48165AC[23], NT_187534.1:g.48165AC[24], NM_004051.5:c.*1177AC[7], NM_004051.5:c.*1177AC[8], NM_004051.5:c.*1177AC[9], NM_004051.5:c.*1177AC[10], NM_004051.5:c.*1177AC[11], NM_004051.5:c.*1177AC[12], NM_004051.5:c.*1177AC[13], NM_004051.5:c.*1177AC[14], NM_004051.5:c.*1177AC[15], NM_004051.5:c.*1177AC[16], NM_004051.5:c.*1177AC[18], NM_004051.5:c.*1177AC[19], NM_004051.5:c.*1177AC[20], NM_004051.5:c.*1177AC[21], NM_004051.5:c.*1177AC[22], NM_004051.5:c.*1177AC[23], NM_004051.5:c.*1177AC[24], NM_004051.4:c.*1177AC[7], NM_004051.4:c.*1177AC[8], NM_004051.4:c.*1177AC[9], NM_004051.4:c.*1177AC[10], NM_004051.4:c.*1177AC[11], NM_004051.4:c.*1177AC[12], NM_004051.4:c.*1177AC[13], NM_004051.4:c.*1177AC[14], NM_004051.4:c.*1177AC[15], NM_004051.4:c.*1177AC[16], NM_004051.4:c.*1177AC[18], NM_004051.4:c.*1177AC[19], NM_004051.4:c.*1177AC[20], NM_004051.4:c.*1177AC[21], NM_004051.4:c.*1177AC[22], NM_004051.4:c.*1177AC[23], NM_004051.4:c.*1177AC[24], XM_011513067.4:c.*1177AC[7], XM_011513067.4:c.*1177AC[8], XM_011513067.4:c.*1177AC[9], XM_011513067.4:c.*1177AC[10], XM_011513067.4:c.*1177AC[11], XM_011513067.4:c.*1177AC[12], XM_011513067.4:c.*1177AC[13], XM_011513067.4:c.*1177AC[14], XM_011513067.4:c.*1177AC[15], XM_011513067.4:c.*1177AC[16], XM_011513067.4:c.*1177AC[18], XM_011513067.4:c.*1177AC[19], XM_011513067.4:c.*1177AC[20], XM_011513067.4:c.*1177AC[21], XM_011513067.4:c.*1177AC[22], XM_011513067.4:c.*1177AC[23], XM_011513067.4:c.*1177AC[24], XM_011513067.2:c.*1177AC[7], XM_011513067.2:c.*1177AC[8], XM_011513067.2:c.*1177AC[9], XM_011513067.2:c.*1177AC[10], XM_011513067.2:c.*1177AC[11], XM_011513067.2:c.*1177AC[12], XM_011513067.2:c.*1177AC[13], XM_011513067.2:c.*1177AC[14], XM_011513067.2:c.*1177AC[15], XM_011513067.2:c.*1177AC[16], XM_011513067.2:c.*1177AC[18], XM_011513067.2:c.*1177AC[19], XM_011513067.2:c.*1177AC[20], XM_011513067.2:c.*1177AC[21], XM_011513067.2:c.*1177AC[22], XM_011513067.2:c.*1177AC[23], XM_011513067.2:c.*1177AC[24], XM_011513067.1:c.*1177AC[7], XM_011513067.1:c.*1177AC[8], XM_011513067.1:c.*1177AC[9], XM_011513067.1:c.*1177AC[10], XM_011513067.1:c.*1177AC[11], XM_011513067.1:c.*1177AC[12], XM_011513067.1:c.*1177AC[13], XM_011513067.1:c.*1177AC[14], XM_011513067.1:c.*1177AC[15], XM_011513067.1:c.*1177AC[16], XM_011513067.1:c.*1177AC[18], XM_011513067.1:c.*1177AC[19], XM_011513067.1:c.*1177AC[20], XM_011513067.1:c.*1177AC[21], XM_011513067.1:c.*1177AC[22], XM_011513067.1:c.*1177AC[23], XM_011513067.1:c.*1177AC[24], XM_005269352.4:c.*1177AC[7], XM_005269352.4:c.*1177AC[8], XM_005269352.4:c.*1177AC[9], XM_005269352.4:c.*1177AC[10], XM_005269352.4:c.*1177AC[11], XM_005269352.4:c.*1177AC[12], XM_005269352.4:c.*1177AC[13], XM_005269352.4:c.*1177AC[14], XM_005269352.4:c.*1177AC[15], XM_005269352.4:c.*1177AC[16], XM_005269352.4:c.*1177AC[18], XM_005269352.4:c.*1177AC[19], XM_005269352.4:c.*1177AC[20], XM_005269352.4:c.*1177AC[21], XM_005269352.4:c.*1177AC[22], XM_005269352.4:c.*1177AC[23], XM_005269352.4:c.*1177AC[24], XM_005269352.3:c.*1177AC[7], XM_005269352.3:c.*1177AC[8], XM_005269352.3:c.*1177AC[9], XM_005269352.3:c.*1177AC[10], XM_005269352.3:c.*1177AC[11], XM_005269352.3:c.*1177AC[12], XM_005269352.3:c.*1177AC[13], XM_005269352.3:c.*1177AC[14], XM_005269352.3:c.*1177AC[15], XM_005269352.3:c.*1177AC[16], XM_005269352.3:c.*1177AC[18], XM_005269352.3:c.*1177AC[19], XM_005269352.3:c.*1177AC[20], XM_005269352.3:c.*1177AC[21], XM_005269352.3:c.*1177AC[22], XM_005269352.3:c.*1177AC[23], XM_005269352.3:c.*1177AC[24], XM_005269352.2:c.*1177AC[7], XM_005269352.2:c.*1177AC[8], XM_005269352.2:c.*1177AC[9], XM_005269352.2:c.*1177AC[10], XM_005269352.2:c.*1177AC[11], XM_005269352.2:c.*1177AC[12], XM_005269352.2:c.*1177AC[13], XM_005269352.2:c.*1177AC[14], XM_005269352.2:c.*1177AC[15], XM_005269352.2:c.*1177AC[16], XM_005269352.2:c.*1177AC[18], XM_005269352.2:c.*1177AC[19], XM_005269352.2:c.*1177AC[20], XM_005269352.2:c.*1177AC[21], XM_005269352.2:c.*1177AC[22], XM_005269352.2:c.*1177AC[23], XM_005269352.2:c.*1177AC[24], NM_203314.3:c.*1177AC[7], NM_203314.3:c.*1177AC[8], NM_203314.3:c.*1177AC[9], NM_203314.3:c.*1177AC[10], NM_203314.3:c.*1177AC[11], NM_203314.3:c.*1177AC[12], NM_203314.3:c.*1177AC[13], NM_203314.3:c.*1177AC[14], NM_203314.3:c.*1177AC[15], NM_203314.3:c.*1177AC[16], NM_203314.3:c.*1177AC[18], NM_203314.3:c.*1177AC[19], NM_203314.3:c.*1177AC[20], NM_203314.3:c.*1177AC[21], NM_203314.3:c.*1177AC[22], NM_203314.3:c.*1177AC[23], NM_203314.3:c.*1177AC[24], NM_203314.2:c.*1177AC[7], NM_203314.2:c.*1177AC[8], NM_203314.2:c.*1177AC[9], NM_203314.2:c.*1177AC[10], NM_203314.2:c.*1177AC[11], NM_203314.2:c.*1177AC[12], NM_203314.2:c.*1177AC[13], NM_203314.2:c.*1177AC[14], NM_203314.2:c.*1177AC[15], NM_203314.2:c.*1177AC[16], NM_203314.2:c.*1177AC[18], NM_203314.2:c.*1177AC[19], NM_203314.2:c.*1177AC[20], NM_203314.2:c.*1177AC[21], NM_203314.2:c.*1177AC[22], NM_203314.2:c.*1177AC[23], NM_203314.2:c.*1177AC[24], NM_203315.3:c.*1177AC[7], NM_203315.3:c.*1177AC[8], NM_203315.3:c.*1177AC[9], NM_203315.3:c.*1177AC[10], NM_203315.3:c.*1177AC[11], NM_203315.3:c.*1177AC[12], NM_203315.3:c.*1177AC[13], NM_203315.3:c.*1177AC[14], NM_203315.3:c.*1177AC[15], NM_203315.3:c.*1177AC[16], NM_203315.3:c.*1177AC[18], NM_203315.3:c.*1177AC[19], NM_203315.3:c.*1177AC[20], NM_203315.3:c.*1177AC[21], NM_203315.3:c.*1177AC[22], NM_203315.3:c.*1177AC[23], NM_203315.3:c.*1177AC[24], NM_203315.2:c.*1177AC[7], NM_203315.2:c.*1177AC[8], NM_203315.2:c.*1177AC[9], NM_203315.2:c.*1177AC[10], NM_203315.2:c.*1177AC[11], NM_203315.2:c.*1177AC[12], NM_203315.2:c.*1177AC[13], NM_203315.2:c.*1177AC[14], NM_203315.2:c.*1177AC[15], NM_203315.2:c.*1177AC[16], NM_203315.2:c.*1177AC[18], NM_203315.2:c.*1177AC[19], NM_203315.2:c.*1177AC[20], NM_203315.2:c.*1177AC[21], NM_203315.2:c.*1177AC[22], NM_203315.2:c.*1177AC[23], NM_203315.2:c.*1177AC[24], XM_017007015.2:c.*1177AC[7], XM_017007015.2:c.*1177AC[8], XM_017007015.2:c.*1177AC[9], XM_017007015.2:c.*1177AC[10], XM_017007015.2:c.*1177AC[11], XM_017007015.2:c.*1177AC[12], XM_017007015.2:c.*1177AC[13], XM_017007015.2:c.*1177AC[14], XM_017007015.2:c.*1177AC[15], XM_017007015.2:c.*1177AC[16], XM_017007015.2:c.*1177AC[18], XM_017007015.2:c.*1177AC[19], XM_017007015.2:c.*1177AC[20], XM_017007015.2:c.*1177AC[21], XM_017007015.2:c.*1177AC[22], XM_017007015.2:c.*1177AC[23], XM_017007015.2:c.*1177AC[24], XM_017007015.1:c.*1177AC[7], XM_017007015.1:c.*1177AC[8], XM_017007015.1:c.*1177AC[9], XM_017007015.1:c.*1177AC[10], XM_017007015.1:c.*1177AC[11], XM_017007015.1:c.*1177AC[12], XM_017007015.1:c.*1177AC[13], XM_017007015.1:c.*1177AC[14], XM_017007015.1:c.*1177AC[15], XM_017007015.1:c.*1177AC[16], XM_017007015.1:c.*1177AC[18], XM_017007015.1:c.*1177AC[19], XM_017007015.1:c.*1177AC[20], XM_017007015.1:c.*1177AC[21], XM_017007015.1:c.*1177AC[22], XM_017007015.1:c.*1177AC[23], XM_017007015.1:c.*1177AC[24], XM_047448680.1:c.*1177AC[7], XM_047448680.1:c.*1177AC[8], XM_047448680.1:c.*1177AC[9], XM_047448680.1:c.*1177AC[10], XM_047448680.1:c.*1177AC[11], XM_047448680.1:c.*1177AC[12], XM_047448680.1:c.*1177AC[13], XM_047448680.1:c.*1177AC[14], XM_047448680.1:c.*1177AC[15], XM_047448680.1:c.*1177AC[16], XM_047448680.1:c.*1177AC[18], XM_047448680.1:c.*1177AC[19], XM_047448680.1:c.*1177AC[20], XM_047448680.1:c.*1177AC[21], XM_047448680.1:c.*1177AC[22], XM_047448680.1:c.*1177AC[23], XM_047448680.1:c.*1177AC[24], XM_047448679.1:c.*1177AC[7], XM_047448679.1:c.*1177AC[8], XM_047448679.1:c.*1177AC[9], XM_047448679.1:c.*1177AC[10], XM_047448679.1:c.*1177AC[11], XM_047448679.1:c.*1177AC[12], XM_047448679.1:c.*1177AC[13], XM_047448679.1:c.*1177AC[14], XM_047448679.1:c.*1177AC[15], XM_047448679.1:c.*1177AC[16], XM_047448679.1:c.*1177AC[18], XM_047448679.1:c.*1177AC[19], XM_047448679.1:c.*1177AC[20], XM_047448679.1:c.*1177AC[21], XM_047448679.1:c.*1177AC[22], XM_047448679.1:c.*1177AC[23], XM_047448679.1:c.*1177AC[24], XM_047448681.1:c.*1177AC[7], XM_047448681.1:c.*1177AC[8], XM_047448681.1:c.*1177AC[9], XM_047448681.1:c.*1177AC[10], XM_047448681.1:c.*1177AC[11], XM_047448681.1:c.*1177AC[12], XM_047448681.1:c.*1177AC[13], XM_047448681.1:c.*1177AC[14], XM_047448681.1:c.*1177AC[15], XM_047448681.1:c.*1177AC[16], XM_047448681.1:c.*1177AC[18], XM_047448681.1:c.*1177AC[19], XM_047448681.1:c.*1177AC[20], XM_047448681.1:c.*1177AC[21], XM_047448681.1:c.*1177AC[22], XM_047448681.1:c.*1177AC[23], XM_047448681.1:c.*1177AC[24], XM_047448682.1:c.*1177AC[7], XM_047448682.1:c.*1177AC[8], XM_047448682.1:c.*1177AC[9], XM_047448682.1:c.*1177AC[10], XM_047448682.1:c.*1177AC[11], XM_047448682.1:c.*1177AC[12], XM_047448682.1:c.*1177AC[13], XM_047448682.1:c.*1177AC[14], XM_047448682.1:c.*1177AC[15], XM_047448682.1:c.*1177AC[16], XM_047448682.1:c.*1177AC[18], XM_047448682.1:c.*1177AC[19], XM_047448682.1:c.*1177AC[20], XM_047448682.1:c.*1177AC[21], XM_047448682.1:c.*1177AC[22], XM_047448682.1:c.*1177AC[23], XM_047448682.1:c.*1177AC[24]

                      11.

                      rs1488498018 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:197511017 (GRCh38)
                        3:197237888 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:197511016:G:A
                        Gene:
                        BDH1 (Varview), LINC02012 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1488452919 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          3:197509602 (GRCh38)
                          3:197236473 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:197509601:G:T
                          Gene:
                          BDH1 (Varview), LINC02012 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1488391744 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:197506276 (GRCh38)
                            3:197233147 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:197506275:C:G
                            Gene:
                            LINC02012 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1488040278 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CAT>- [Show Flanks]
                              Chromosome:
                              3:197511562 (GRCh38)
                              3:197238433 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:197511560:TCAT:T
                              Gene:
                              BDH1 (Varview), LINC02012 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              -=0.000011/3 (TOPMED)
                              HGVS:

                              15.

                              rs1487107785 has merged into rs11289395 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
                                Chromosome:
                                3:197506775 (GRCh38)
                                3:197233646 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:197506762:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                                Gene:
                                LINC02012 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAA=0./0 (ALFA)
                                A=0.0125/48 (ALSPAC)
                                A=0.0132/49 (TWINSUK)
                                A=0.0784/45 (NorthernSweden)
                                A=0.0956/479 (1000Genomes)
                                A=0.425/17 (GENOME_DK)
                                HGVS:
                                NC_000003.12:g.197506775_197506779del, NC_000003.12:g.197506777_197506779del, NC_000003.12:g.197506778_197506779del, NC_000003.12:g.197506779del, NC_000003.12:g.197506779dup, NC_000003.12:g.197506778_197506779dup, NC_000003.12:g.197506777_197506779dup, NC_000003.11:g.197233646_197233650del, NC_000003.11:g.197233648_197233650del, NC_000003.11:g.197233649_197233650del, NC_000003.11:g.197233650del, NC_000003.11:g.197233650dup, NC_000003.11:g.197233649_197233650dup, NC_000003.11:g.197233648_197233650dup, NT_187534.1:g.52116_52120del, NT_187534.1:g.52118_52120del, NT_187534.1:g.52119_52120del, NT_187534.1:g.52120del, NT_187534.1:g.52120dup, NT_187534.1:g.52119_52120dup, NT_187534.1:g.52118_52120dup, NR_145451.1:n.2895_2899del, NR_145451.1:n.2897_2899del, NR_145451.1:n.2898_2899del, NR_145451.1:n.2899del, NR_145451.1:n.2899dup, NR_145451.1:n.2898_2899dup, NR_145451.1:n.2897_2899dup

                                16.

                                rs1487081330 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:197505544 (GRCh38)
                                  3:197232415 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:197505543:G:A
                                  Gene:
                                  LINC02012 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000342/1 (KOREAN)
                                  HGVS:

                                  17.

                                  rs1486734403 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    3:197510369 (GRCh38)
                                    3:197237240 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:197510368:C:G,NC_000003.12:197510368:C:T
                                    Gene:
                                    BDH1 (Varview), LINC02012 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.197510369C>G, NC_000003.12:g.197510369C>T, NC_000003.11:g.197237240C>G, NC_000003.11:g.197237240C>T, NT_187534.1:g.48514G>C, NT_187534.1:g.48514G>A, NM_004051.5:c.*1526G>C, NM_004051.5:c.*1526G>A, NM_004051.4:c.*1526G>C, NM_004051.4:c.*1526G>A, XM_011513067.4:c.*1526G>C, XM_011513067.4:c.*1526G>A, XM_011513067.2:c.*1526G>C, XM_011513067.2:c.*1526G>A, XM_011513067.1:c.*1526G>C, XM_011513067.1:c.*1526G>A, XM_005269352.4:c.*1526G>C, XM_005269352.4:c.*1526G>A, XM_005269352.3:c.*1526G>C, XM_005269352.3:c.*1526G>A, XM_005269352.2:c.*1526G>C, XM_005269352.2:c.*1526G>A, NM_203314.3:c.*1526G>C, NM_203314.3:c.*1526G>A, NM_203314.2:c.*1526G>C, NM_203314.2:c.*1526G>A, NM_203315.3:c.*1526G>C, NM_203315.3:c.*1526G>A, NM_203315.2:c.*1526G>C, NM_203315.2:c.*1526G>A, XM_017007015.2:c.*1526G>C, XM_017007015.2:c.*1526G>A, XM_017007015.1:c.*1526G>C, XM_017007015.1:c.*1526G>A, XM_047448679.1:c.*1526G>C, XM_047448679.1:c.*1526G>A, XM_047448681.1:c.*1526G>C, XM_047448681.1:c.*1526G>A, XM_047448682.1:c.*1526G>C, XM_047448682.1:c.*1526G>A, XM_047448680.1:c.*1526G>C, XM_047448680.1:c.*1526G>A

                                    18.

                                    rs1486657519 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:197509732 (GRCh38)
                                      3:197236603 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:197509731:C:T
                                      Gene:
                                      BDH1 (Varview), LINC02012 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1486523234 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>- [Show Flanks]
                                        Chromosome:
                                        3:197510600 (GRCh38)
                                        3:197237471 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:197510598:GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:G
                                        Gene:
                                        BDH1 (Varview), LINC02012 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        -=0.00009/10 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1485848574 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:197505584 (GRCh38)
                                          3:197232455 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:197505583:A:G
                                          Gene:
                                          LINC02012 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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