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Items: 1 to 20 of 7324

1.

rs1491520276 has merged into rs35034395 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    9:86136040 (GRCh38)
    9:88750955 (GRCh37)
    Canonical SPDI:
    NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:86136029:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LOC101927623 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.86136040_86136044del, NC_000009.12:g.86136041_86136044del, NC_000009.12:g.86136042_86136044del, NC_000009.12:g.86136043_86136044del, NC_000009.12:g.86136044del, NC_000009.12:g.86136044dup, NC_000009.12:g.86136043_86136044dup, NC_000009.12:g.86136042_86136044dup, NC_000009.12:g.86136041_86136044dup, NC_000009.12:g.86136040_86136044dup, NC_000009.12:g.86136039_86136044dup, NC_000009.12:g.86136038_86136044dup, NC_000009.12:g.86136037_86136044dup, NC_000009.11:g.88750955_88750959del, NC_000009.11:g.88750956_88750959del, NC_000009.11:g.88750957_88750959del, NC_000009.11:g.88750958_88750959del, NC_000009.11:g.88750959del, NC_000009.11:g.88750959dup, NC_000009.11:g.88750958_88750959dup, NC_000009.11:g.88750957_88750959dup, NC_000009.11:g.88750956_88750959dup, NC_000009.11:g.88750955_88750959dup, NC_000009.11:g.88750954_88750959dup, NC_000009.11:g.88750953_88750959dup, NC_000009.11:g.88750952_88750959dup
    2.

    rs1491493285 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATAAATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA,ATATATATATATATATATATATGTA,C [Show Flanks]
      Chromosome:
      9:86136030 (GRCh38)
      9:88750946 (GRCh37)
      Canonical SPDI:
      NC_000009.12:86136030::A,NC_000009.12:86136030::ATA,NC_000009.12:86136030::ATATA,NC_000009.12:86136030::ATATATA,NC_000009.12:86136030::ATATATATA,NC_000009.12:86136030::ATATATATAAATA,NC_000009.12:86136030::ATATATATATA,NC_000009.12:86136030::ATATATATATATA,NC_000009.12:86136030::ATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATATATATATATA,NC_000009.12:86136030::ATATATATATATATATATATATGTA,NC_000009.12:86136030::C
      Gene:
      LOC101927623 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATA=0./0 (ALFA)
      A=0.00502/8 (Korea1K)
      ATATATATATATATA=0.01446/7 (NorthernSweden)
      HGVS:
      NC_000009.12:g.86136030_86136031insA, NC_000009.12:g.86136030_86136031insATA, NC_000009.12:g.86136030_86136031insATATA, NC_000009.12:g.86136030_86136031insATATATA, NC_000009.12:g.86136030_86136031insATATATATA, NC_000009.12:g.86136030_86136031insATATATATAAATA, NC_000009.12:g.86136030_86136031insATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATATATATATATA, NC_000009.12:g.86136030_86136031insATATATATATATATATATATATGTA, NC_000009.12:g.86136030_86136031insC, NC_000009.11:g.88750945_88750946insA, NC_000009.11:g.88750945_88750946insATA, NC_000009.11:g.88750945_88750946insATATA, NC_000009.11:g.88750945_88750946insATATATA, NC_000009.11:g.88750945_88750946insATATATATA, NC_000009.11:g.88750945_88750946insATATATATAAATA, NC_000009.11:g.88750945_88750946insATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATATATATATATA, NC_000009.11:g.88750945_88750946insATATATATATATATATATATATGTA, NC_000009.11:g.88750945_88750946insC
      3.

      rs1491422834 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TTAT,TTATAT,TTATATAT,TTATATATAT,TTATATATATAT,TTATATATATATAT,TTATATATATATATAT,TTATATATATATATATAT,TTATATATATATATATATAT,TTATATATATATATATATATAT [Show Flanks]
        Chromosome:
        9:86135999 (GRCh38)
        9:88750915 (GRCh37)
        Canonical SPDI:
        NC_000009.12:86135999:T:TTTAT,NC_000009.12:86135999:T:TTTATAT,NC_000009.12:86135999:T:TTTATATAT,NC_000009.12:86135999:T:TTTATATATAT,NC_000009.12:86135999:T:TTTATATATATAT,NC_000009.12:86135999:T:TTTATATATATATAT,NC_000009.12:86135999:T:TTTATATATATATATAT,NC_000009.12:86135999:T:TTTATATATATATATATAT,NC_000009.12:86135999:T:TTTATATATATATATATATAT,NC_000009.12:86135999:T:TTTATATATATATATATATATAT
        Gene:
        LOC101927623 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTATAT=0./0 (ALFA)
        HGVS:
        NC_000009.12:g.86136000_86136001insTTAT, NC_000009.12:g.86136000_86136001insTTATAT, NC_000009.12:g.86136000_86136001insTTATATAT, NC_000009.12:g.86136000_86136001insTTATATATAT, NC_000009.12:g.86136000_86136001insTTATATATATAT, NC_000009.12:g.86136000_86136001insTTATATATATATAT, NC_000009.12:g.86136000_86136001insTTATATATATATATAT, NC_000009.12:g.86136000_86136001insTTATATATATATATATAT, NC_000009.12:g.86136000_86136001insTTATATATATATATATATAT, NC_000009.12:g.86136000_86136001insTTATATATATATATATATATAT, NC_000009.11:g.88750915_88750916insTTAT, NC_000009.11:g.88750915_88750916insTTATAT, NC_000009.11:g.88750915_88750916insTTATATAT, NC_000009.11:g.88750915_88750916insTTATATATAT, NC_000009.11:g.88750915_88750916insTTATATATATAT, NC_000009.11:g.88750915_88750916insTTATATATATATAT, NC_000009.11:g.88750915_88750916insTTATATATATATATAT, NC_000009.11:g.88750915_88750916insTTATATATATATATATAT, NC_000009.11:g.88750915_88750916insTTATATATATATATATATAT, NC_000009.11:g.88750915_88750916insTTATATATATATATATATATAT
        4.

        rs1491416390 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          9:86138796 (GRCh38)
          9:88753711 (GRCh37)
          Canonical SPDI:
          NC_000009.12:86138795:CA:
          Gene:
          LOC101927623 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.0086/102 (ALFA)
          -=0.00193/54 (TOMMO)
          HGVS:
          5.

          rs1491363003 has merged into rs11296885 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            9:86138806 (GRCh38)
            9:88753721 (GRCh37)
            Canonical SPDI:
            NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:86138796:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            LOC101927623 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000009.12:g.86138806_86138817del, NC_000009.12:g.86138807_86138817del, NC_000009.12:g.86138809_86138817del, NC_000009.12:g.86138810_86138817del, NC_000009.12:g.86138812_86138817del, NC_000009.12:g.86138813_86138817del, NC_000009.12:g.86138814_86138817del, NC_000009.12:g.86138815_86138817del, NC_000009.12:g.86138816_86138817del, NC_000009.12:g.86138817del, NC_000009.12:g.86138817dup, NC_000009.12:g.86138816_86138817dup, NC_000009.12:g.86138815_86138817dup, NC_000009.12:g.86138814_86138817dup, NC_000009.12:g.86138813_86138817dup, NC_000009.12:g.86138812_86138817dup, NC_000009.12:g.86138811_86138817dup, NC_000009.12:g.86138810_86138817dup, NC_000009.12:g.86138809_86138817dup, NC_000009.12:g.86138808_86138817dup, NC_000009.12:g.86138802_86138817dup, NC_000009.12:g.86138817_86138818insAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.88753721_88753732del, NC_000009.11:g.88753722_88753732del, NC_000009.11:g.88753724_88753732del, NC_000009.11:g.88753725_88753732del, NC_000009.11:g.88753727_88753732del, NC_000009.11:g.88753728_88753732del, NC_000009.11:g.88753729_88753732del, NC_000009.11:g.88753730_88753732del, NC_000009.11:g.88753731_88753732del, NC_000009.11:g.88753732del, NC_000009.11:g.88753732dup, NC_000009.11:g.88753731_88753732dup, NC_000009.11:g.88753730_88753732dup, NC_000009.11:g.88753729_88753732dup, NC_000009.11:g.88753728_88753732dup, NC_000009.11:g.88753727_88753732dup, NC_000009.11:g.88753726_88753732dup, NC_000009.11:g.88753725_88753732dup, NC_000009.11:g.88753724_88753732dup, NC_000009.11:g.88753723_88753732dup, NC_000009.11:g.88753717_88753732dup, NC_000009.11:g.88753732_88753733insAAAAAAAAAAAAAAAAAAAAAA
            6.

            rs1491334711 has merged into rs72143616 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACAAACAA>-,ACAA,ACAAACAAACAA,ACAAACAAACAAACAA [Show Flanks]
              Chromosome:
              9:86126474 (GRCh38)
              9:88741389 (GRCh37)
              Canonical SPDI:
              NC_000009.12:86126459:AAACAAACAAACAAACAAACAA:AAACAAACAAACAA,NC_000009.12:86126459:AAACAAACAAACAAACAAACAA:AAACAAACAAACAAACAA,NC_000009.12:86126459:AAACAAACAAACAAACAAACAA:AAACAAACAAACAAACAAACAAACAA,NC_000009.12:86126459:AAACAAACAAACAAACAAACAA:AAACAAACAAACAAACAAACAAACAAACAA
              Gene:
              LOC101927623 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAACAAACAAACAAACAAACAAACAAACAA=0./0 (ALFA)
              AAACAAAC=0.000079/21 (TOPMED)
              AAAC=0.074766/16 (Vietnamese)
              AAAC=0.103834/520 (1000Genomes)
              AAAC=0.164937/731 (Estonian)
              HGVS:
              7.

              rs1490971181 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:86148519 (GRCh38)
                9:88763434 (GRCh37)
                Canonical SPDI:
                NC_000009.12:86148518:G:A
                Gene:
                LOC101927623 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.00086/14 (ALFA)
                A=0.0012/34 (TOMMO)
                A=0.00924/27 (KOREAN)
                HGVS:
                8.

                rs1490846923 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:86127027 (GRCh38)
                  9:88741942 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:86127026:G:A
                  Gene:
                  LOC101927623 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1490813310 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:86156912 (GRCh38)
                    9:88771827 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:86156911:C:T
                    Gene:
                    LOC101927623 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000023/6 (TOPMED)
                    T=0.00005/7 (GnomAD)
                    HGVS:
                    10.

                    rs1490796037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:86142301 (GRCh38)
                      9:88757216 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:86142300:G:A
                      Gene:
                      LOC101927623 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490768067 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        9:86143302 (GRCh38)
                        9:88758217 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:86143301:T:A
                        Gene:
                        LOC101927623 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490376131 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ATATATTTTT>- [Show Flanks]
                          Chromosome:
                          9:86136025 (GRCh38)
                          9:88750940 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:86136023:TATATATTTTT:T
                          Gene:
                          LOC101927623 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00017/2 (ALFA)
                          -=0.00093/35 (GnomAD)
                          -=0.00508/75 (TOMMO)
                          HGVS:
                          13.

                          rs1490367739 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            9:86149497 (GRCh38)
                            9:88764412 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:86149496:CC:C
                            Gene:
                            LOC101927623 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CC=0.000071/1 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490114798 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:86130205 (GRCh38)
                              9:88745120 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:86130204:T:C
                              Gene:
                              LOC101927623 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1490089844 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:86140918 (GRCh38)
                                9:88755833 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:86140917:G:A
                                Gene:
                                LOC101927623 (Varview)
                                Functional Consequence:
                                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:
                                16.

                                rs1490026213 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:86126570 (GRCh38)
                                  9:88741485 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:86126569:A:G
                                  Gene:
                                  LOC101927623 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_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:
                                  17.

                                  rs1489925264 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    9:86140631 (GRCh38)
                                    9:88755546 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:86140630:T:C
                                    Gene:
                                    LOC101927623 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000016/2 (GnomAD)
                                    C=0.000389/11 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1489831629 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:86156046 (GRCh38)
                                      9:88770961 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:86156045:T:C
                                      Gene:
                                      LOC101927623 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489800260 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:86155177 (GRCh38)
                                        9:88770092 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:86155176:G:A
                                        Gene:
                                        LOC101927623 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489799631 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          9:86149151 (GRCh38)
                                          9:88764066 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:86149150:G:A,NC_000009.12:86149150:G:T
                                          Gene:
                                          LOC101927623 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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