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1.

rs1491490791 has merged into rs577222527 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    15:72173944 (GRCh38)
    15:72466285 (GRCh37)
    Canonical SPDI:
    NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:72173933:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    GRAMD2A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    A=0.2081/1042 (1000Genomes)
    HGVS:
    NC_000015.10:g.72173944_72173957del, NC_000015.10:g.72173945_72173957del, NC_000015.10:g.72173946_72173957del, NC_000015.10:g.72173947_72173957del, NC_000015.10:g.72173948_72173957del, NC_000015.10:g.72173949_72173957del, NC_000015.10:g.72173950_72173957del, NC_000015.10:g.72173951_72173957del, NC_000015.10:g.72173952_72173957del, NC_000015.10:g.72173953_72173957del, NC_000015.10:g.72173954_72173957del, NC_000015.10:g.72173955_72173957del, NC_000015.10:g.72173956_72173957del, NC_000015.10:g.72173957del, NC_000015.10:g.72173957dup, NC_000015.10:g.72173956_72173957dup, NC_000015.10:g.72173955_72173957dup, NC_000015.10:g.72173954_72173957dup, NC_000015.10:g.72173953_72173957dup, NC_000015.10:g.72173952_72173957dup, NC_000015.10:g.72173951_72173957dup, NC_000015.10:g.72173950_72173957dup, NC_000015.9:g.72466285_72466298del, NC_000015.9:g.72466286_72466298del, NC_000015.9:g.72466287_72466298del, NC_000015.9:g.72466288_72466298del, NC_000015.9:g.72466289_72466298del, NC_000015.9:g.72466290_72466298del, NC_000015.9:g.72466291_72466298del, NC_000015.9:g.72466292_72466298del, NC_000015.9:g.72466293_72466298del, NC_000015.9:g.72466294_72466298del, NC_000015.9:g.72466295_72466298del, NC_000015.9:g.72466296_72466298del, NC_000015.9:g.72466297_72466298del, NC_000015.9:g.72466298del, NC_000015.9:g.72466298dup, NC_000015.9:g.72466297_72466298dup, NC_000015.9:g.72466296_72466298dup, NC_000015.9:g.72466295_72466298dup, NC_000015.9:g.72466294_72466298dup, NC_000015.9:g.72466293_72466298dup, NC_000015.9:g.72466292_72466298dup, NC_000015.9:g.72466291_72466298dup

    2.

    rs1491400483 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,A [Show Flanks]
      Chromosome:
      15:72199016 (GRCh38)
      15:72491357 (GRCh37)
      Canonical SPDI:
      NC_000015.10:72199013:AAAA:AA,NC_000015.10:72199013:AAAA:AAA
      Gene:
      PKM (Varview), GRAMD2A (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAA=0./0 (ALFA)
      -=0.000043/6 (GnomAD)
      HGVS:

      3.

      rs1491366065 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->GTAAA
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491223378 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          15:72182362 (GRCh38)
          15:72474703 (GRCh37)
          Canonical SPDI:
          NC_000015.10:72182361:CA:
          Gene:
          GRAMD2A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:

          5.

          rs1491201034 has merged into rs775170780 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
            Chromosome:
            15:72172430 (GRCh38)
            15:72464771 (GRCh37)
            Canonical SPDI:
            NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:72172418:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
            Gene:
            GRAMD2A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTT=0./0 (ALFA)
            -=0.125/5 (GENOME_DK)
            HGVS:

            6.

            rs1490982896 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              15:72184217 (GRCh38)
              15:72476558 (GRCh37)
              Canonical SPDI:
              NC_000015.10:72184216:C:A
              Gene:
              GRAMD2A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000142/2 (ALFA)
              A=0.000043/6 (GnomAD)
              A=0.000045/12 (TOPMED)
              HGVS:

              7.

              rs1490974874 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                15:72168089 (GRCh38)
                15:72460430 (GRCh37)
                Canonical SPDI:
                NC_000015.10:72168088:G:A,NC_000015.10:72168088:G:T
                Gene:
                GRAMD2A (Varview), LOC124903522 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                A=0.000035/1 (TOMMO)
                HGVS:

                8.

                rs1490890184 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  15:72185296 (GRCh38)
                  15:72477637 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:72185295:C:G,NC_000015.10:72185295:C:T
                  Gene:
                  GRAMD2A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000021/3 (GnomAD)
                  HGVS:

                  9.

                  rs1490840383 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:72192843 (GRCh38)
                    15:72485184 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:72192842:G:A
                    Gene:
                    GRAMD2A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0./0 (KOREAN)
                    A=0.000021/3 (GnomAD)
                    A=0.00003/8 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    A=0.000546/1 (Korea1K)
                    HGVS:

                    10.

                    rs1490784990 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      15:72176500 (GRCh38)
                      15:72468841 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:72176499:A:G
                      Gene:
                      GRAMD2A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490710422 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:72162474 (GRCh38)
                        15:72454815 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:72162473:G:A
                        Gene:
                        GRAMD2A (Varview), LOC124903522 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000036/5 (GnomAD)
                        HGVS:

                        12.

                        rs1490587284 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          15:72199440 (GRCh38)
                          15:72491781 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:72199439:A:C,NC_000015.10:72199439:A:G
                          Gene:
                          PKM (Varview), GRAMD2A (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          C=0.000058/8 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.72199440A>C, NC_000015.10:g.72199440A>G, NC_000015.9:g.72491781A>C, NC_000015.9:g.72491781A>G, NG_052978.1:g.37185T>G, NG_052978.1:g.37185T>C, NM_002654.6:c.*210T>G, NM_002654.6:c.*210T>C, NM_002654.5:c.*210T>G, NM_002654.5:c.*210T>C, NM_002654.4:c.*210T>G, NM_002654.4:c.*210T>C, NM_182470.4:c.*210T>G, NM_182470.4:c.*210T>C, NM_182470.3:c.*210T>G, NM_182470.3:c.*210T>C, NM_182470.2:c.*210T>G, NM_182470.2:c.*210T>C, NM_182471.4:c.*210T>G, NM_182471.4:c.*210T>C, NM_182471.3:c.*210T>G, NM_182471.3:c.*210T>C, NM_182471.2:c.*210T>G, NM_182471.2:c.*210T>C, NM_001206796.3:c.*210T>G, NM_001206796.3:c.*210T>C, NM_001206796.2:c.*210T>G, NM_001206796.2:c.*210T>C, NM_001206796.1:c.*210T>G, NM_001206796.1:c.*210T>C, NM_001206798.3:c.*210T>G, NM_001206798.3:c.*210T>C, NM_001206798.2:c.*210T>G, NM_001206798.2:c.*210T>C, NM_001206798.1:c.*210T>G, NM_001206798.1:c.*210T>C, NM_001206797.3:c.*210T>G, NM_001206797.3:c.*210T>C, NM_001206797.2:c.*210T>G, NM_001206797.2:c.*210T>C, NM_001206797.1:c.*210T>G, NM_001206797.1:c.*210T>C, NM_001206799.2:c.*210T>G, NM_001206799.2:c.*210T>C, NM_001206799.1:c.*210T>G, NM_001206799.1:c.*210T>C, NM_001316318.2:c.*210T>G, NM_001316318.2:c.*210T>C, NM_001316318.1:c.*210T>G, NM_001316318.1:c.*210T>C, NM_001411081.1:c.*210T>G, NM_001411081.1:c.*210T>C, XM_005254445.6:c.*210T>G, XM_005254445.6:c.*210T>C, XM_005254445.5:c.*210T>G, XM_005254445.5:c.*210T>C, XM_005254445.4:c.*210T>G, XM_005254445.4:c.*210T>C, XM_005254445.3:c.*210T>G, XM_005254445.3:c.*210T>C, XM_005254445.2:c.*210T>G, XM_005254445.2:c.*210T>C, XM_005254445.1:c.*210T>G, XM_005254445.1:c.*210T>C, XM_005254443.2:c.*210T>G, XM_005254443.2:c.*210T>C, XM_005254443.1:c.*210T>G, XM_005254443.1:c.*210T>C, XM_006720570.2:c.*210T>G, XM_006720570.2:c.*210T>C, XM_011521670.2:c.*210T>G, XM_011521670.2:c.*210T>C, XM_011521670.1:c.*210T>G, XM_011521670.1:c.*210T>C, XM_047432665.1:c.*210T>G, XM_047432665.1:c.*210T>C, XM_047432664.1:c.*210T>G, XM_047432664.1:c.*210T>C, XM_047432666.1:c.*210T>G, XM_047432666.1:c.*210T>C, XM_047432663.1:c.*210T>G, XM_047432663.1:c.*210T>C, XM_047432662.1:c.*210T>G, XM_047432662.1:c.*210T>C

                          13.

                          rs1490508635 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            15:72180653 (GRCh38)
                            15:72472994 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:72180652:C:A,NC_000015.10:72180652:C:T
                            Gene:
                            GRAMD2A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490492715 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:72183209 (GRCh38)
                              15:72475550 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:72183208:A:G
                              Gene:
                              GRAMD2A (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.0002/1 (ALFA)
                              G=0.0002/1 (Estonian)
                              HGVS:

                              15.

                              rs1490483703 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                15:72182824 (GRCh38)
                                15:72475165 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:72182823:T:C,NC_000015.10:72182823:T:G
                                Gene:
                                GRAMD2A (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490482227 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:72167569 (GRCh38)
                                  15:72459910 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:72167568:T:C
                                  Gene:
                                  GRAMD2A (Varview), LOC124903522 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1490417110 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:72165312 (GRCh38)
                                    15:72457653 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:72165311:A:G
                                    Gene:
                                    GRAMD2A (Varview), LOC124903522 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490387711 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      15:72183925 (GRCh38)
                                      15:72476266 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:72183924:T:G
                                      Gene:
                                      GRAMD2A (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490263878 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:72161122 (GRCh38)
                                        15:72453463 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:72161121:G:A
                                        Gene:
                                        GRAMD2A (Varview), LOC124903522 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490258112 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          15:72169600 (GRCh38)
                                          15:72461941 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:72169599:T:A
                                          Gene:
                                          GRAMD2A (Varview), LOC124903522 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000008/1 (GnomAD_exomes)
                                          HGVS:

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