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Items: 1 to 20 of 15533

1.

rs1491559660 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->CTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491527290 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      >
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491509230 has merged into rs61151030 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        2:219456920 (GRCh38)
        2:220321642 (GRCh37)
        Canonical SPDI:
        NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:219456908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        SPEG (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAA=0./0 (ALFA)
        A=0.0124/5 (NorthernSweden)
        HGVS:
        NC_000002.12:g.219456920_219456924del, NC_000002.12:g.219456922_219456924del, NC_000002.12:g.219456923_219456924del, NC_000002.12:g.219456924del, NC_000002.12:g.219456924dup, NC_000002.12:g.219456923_219456924dup, NC_000002.12:g.219456922_219456924dup, NC_000002.12:g.219456921_219456924dup, NC_000002.12:g.219456920_219456924dup, NC_000002.12:g.219456924_219456925insAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.220321642_220321646del, NC_000002.11:g.220321644_220321646del, NC_000002.11:g.220321645_220321646del, NC_000002.11:g.220321646del, NC_000002.11:g.220321646dup, NC_000002.11:g.220321645_220321646dup, NC_000002.11:g.220321644_220321646dup, NC_000002.11:g.220321643_220321646dup, NC_000002.11:g.220321642_220321646dup, NC_000002.11:g.220321646_220321647insAAAAAAAAAAAAAAAAAAAA, NG_051022.1:g.27706_27710del, NG_051022.1:g.27708_27710del, NG_051022.1:g.27709_27710del, NG_051022.1:g.27710del, NG_051022.1:g.27710dup, NG_051022.1:g.27709_27710dup, NG_051022.1:g.27708_27710dup, NG_051022.1:g.27707_27710dup, NG_051022.1:g.27706_27710dup, NG_051022.1:g.27710_27711insAAAAAAAAAAAAAAAAAAAA

        4.

        rs1491508196 has merged into rs71040459 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          2:219463405 (GRCh38)
          2:220328127 (GRCh37)
          Canonical SPDI:
          NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:219463392:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SPEG (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          -=0.2/8 (GENOME_DK)
          HGVS:
          NC_000002.12:g.219463405_219463430del, NC_000002.12:g.219463406_219463430del, NC_000002.12:g.219463407_219463430del, NC_000002.12:g.219463408_219463430del, NC_000002.12:g.219463409_219463430del, NC_000002.12:g.219463410_219463430del, NC_000002.12:g.219463411_219463430del, NC_000002.12:g.219463412_219463430del, NC_000002.12:g.219463413_219463430del, NC_000002.12:g.219463414_219463430del, NC_000002.12:g.219463415_219463430del, NC_000002.12:g.219463416_219463430del, NC_000002.12:g.219463417_219463430del, NC_000002.12:g.219463418_219463430del, NC_000002.12:g.219463419_219463430del, NC_000002.12:g.219463420_219463430del, NC_000002.12:g.219463421_219463430del, NC_000002.12:g.219463422_219463430del, NC_000002.12:g.219463423_219463430del, NC_000002.12:g.219463426_219463430del, NC_000002.12:g.219463427_219463430del, NC_000002.12:g.219463428_219463430del, NC_000002.12:g.219463429_219463430del, NC_000002.12:g.219463430del, NC_000002.12:g.219463430dup, NC_000002.12:g.219463429_219463430dup, NC_000002.12:g.219463428_219463430dup, NC_000002.12:g.219463427_219463430dup, NC_000002.12:g.219463426_219463430dup, NC_000002.12:g.219463425_219463430dup, NC_000002.12:g.219463424_219463430dup, NC_000002.12:g.219463423_219463430dup, NC_000002.12:g.219463422_219463430dup, NC_000002.12:g.219463421_219463430dup, NC_000002.12:g.219463420_219463430dup, NC_000002.12:g.219463419_219463430dup, NC_000002.12:g.219463418_219463430dup, NC_000002.12:g.219463415_219463430dup, NC_000002.12:g.219463413_219463430dup, NC_000002.12:g.219463411_219463430dup, NC_000002.11:g.220328127_220328152del, NC_000002.11:g.220328128_220328152del, NC_000002.11:g.220328129_220328152del, NC_000002.11:g.220328130_220328152del, NC_000002.11:g.220328131_220328152del, NC_000002.11:g.220328132_220328152del, NC_000002.11:g.220328133_220328152del, NC_000002.11:g.220328134_220328152del, NC_000002.11:g.220328135_220328152del, NC_000002.11:g.220328136_220328152del, NC_000002.11:g.220328137_220328152del, NC_000002.11:g.220328138_220328152del, NC_000002.11:g.220328139_220328152del, NC_000002.11:g.220328140_220328152del, NC_000002.11:g.220328141_220328152del, NC_000002.11:g.220328142_220328152del, NC_000002.11:g.220328143_220328152del, NC_000002.11:g.220328144_220328152del, NC_000002.11:g.220328145_220328152del, NC_000002.11:g.220328148_220328152del, NC_000002.11:g.220328149_220328152del, NC_000002.11:g.220328150_220328152del, NC_000002.11:g.220328151_220328152del, NC_000002.11:g.220328152del, NC_000002.11:g.220328152dup, NC_000002.11:g.220328151_220328152dup, NC_000002.11:g.220328150_220328152dup, NC_000002.11:g.220328149_220328152dup, NC_000002.11:g.220328148_220328152dup, NC_000002.11:g.220328147_220328152dup, NC_000002.11:g.220328146_220328152dup, NC_000002.11:g.220328145_220328152dup, NC_000002.11:g.220328144_220328152dup, NC_000002.11:g.220328143_220328152dup, NC_000002.11:g.220328142_220328152dup, NC_000002.11:g.220328141_220328152dup, NC_000002.11:g.220328140_220328152dup, NC_000002.11:g.220328137_220328152dup, NC_000002.11:g.220328135_220328152dup, NC_000002.11:g.220328133_220328152dup, NG_051022.1:g.34191_34216del, NG_051022.1:g.34192_34216del, NG_051022.1:g.34193_34216del, NG_051022.1:g.34194_34216del, NG_051022.1:g.34195_34216del, NG_051022.1:g.34196_34216del, NG_051022.1:g.34197_34216del, NG_051022.1:g.34198_34216del, NG_051022.1:g.34199_34216del, NG_051022.1:g.34200_34216del, NG_051022.1:g.34201_34216del, NG_051022.1:g.34202_34216del, NG_051022.1:g.34203_34216del, NG_051022.1:g.34204_34216del, NG_051022.1:g.34205_34216del, NG_051022.1:g.34206_34216del, NG_051022.1:g.34207_34216del, NG_051022.1:g.34208_34216del, NG_051022.1:g.34209_34216del, NG_051022.1:g.34212_34216del, NG_051022.1:g.34213_34216del, NG_051022.1:g.34214_34216del, NG_051022.1:g.34215_34216del, NG_051022.1:g.34216del, NG_051022.1:g.34216dup, NG_051022.1:g.34215_34216dup, NG_051022.1:g.34214_34216dup, NG_051022.1:g.34213_34216dup, NG_051022.1:g.34212_34216dup, NG_051022.1:g.34211_34216dup, NG_051022.1:g.34210_34216dup, NG_051022.1:g.34209_34216dup, NG_051022.1:g.34208_34216dup, NG_051022.1:g.34207_34216dup, NG_051022.1:g.34206_34216dup, NG_051022.1:g.34205_34216dup, NG_051022.1:g.34204_34216dup, NG_051022.1:g.34201_34216dup, NG_051022.1:g.34199_34216dup, NG_051022.1:g.34197_34216dup

          5.

          rs1491448848 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TG>- [Show Flanks]
            Chromosome:
            2:219465874 (GRCh38)
            2:220330596 (GRCh37)
            Canonical SPDI:
            NC_000002.12:219465868:GTGTGTG:GTGTG
            Gene:
            SPEG (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            GTGTG=0./0 (ALFA)
            -=0.000022/3 (GnomAD)
            HGVS:

            6.

            rs1491407733 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              2:219456908 (GRCh38)
              2:220321630 (GRCh37)
              Canonical SPDI:
              NC_000002.12:219456907:CA:
              Gene:
              SPEG (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00017/2 (ALFA)
              HGVS:

              7.

              rs1491323943 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                2:219463392 (GRCh38)
                2:220328114 (GRCh37)
                Canonical SPDI:
                NC_000002.12:219463391:AT:
                Gene:
                SPEG (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00051/6 (ALFA)
                HGVS:

                8.

                rs1491233765 has merged into rs943030941 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
                  Chromosome:
                  2:219465988 (GRCh38)
                  2:220330710 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:219465979:TGTGTGTGTGTG:TGTGTGTG,NC_000002.12:219465979:TGTGTGTGTGTG:TGTGTGTGTG,NC_000002.12:219465979:TGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000002.12:219465979:TGTGTGTGTGTG:TGTGTGTGTGTGTGTG
                  Gene:
                  SPEG (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTGTGTGTGTGTG=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490972087 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:219433471 (GRCh38)
                    2:220298193 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:219433470:T:A
                    Gene:
                    SPEG (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490910466 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:219492875 (GRCh38)
                      2:220357597 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:219492874:G:A
                      Gene:
                      SPEG (Varview), ASIC4-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000107/15 (GnomAD)
                      A=0.000144/38 (TOPMED)
                      HGVS:
                      NC_000002.12:g.219492875G>A, NC_000002.11:g.220357597G>A, NG_051022.1:g.63661G>A, NM_005876.5:c.*89G>A, NM_005876.4:c.*89G>A, XM_005246242.5:c.*89G>A, XM_005246242.4:c.*89G>A, XM_005246242.3:c.*89G>A, XM_005246242.2:c.*89G>A, XM_005246242.1:c.*89G>A, XM_006712189.4:c.*89G>A, XM_006712189.3:c.*89G>A, XM_006712189.2:c.*89G>A, XM_006712189.1:c.*89G>A, XM_006712193.4:c.*89G>A, XM_006712193.3:c.*89G>A, XM_006712193.2:c.*89G>A, XM_006712193.1:c.*89G>A, XM_011510479.3:c.*89G>A, XM_011510479.2:c.*89G>A, XM_011510479.1:c.*89G>A, XM_005246237.3:c.*89G>A, XM_005246237.2:c.*89G>A, XM_005246237.1:c.*89G>A, XM_005246239.3:c.*89G>A, XM_005246239.2:c.*89G>A, XM_005246239.1:c.*89G>A, XM_005246241.2:c.*89G>A, XM_005246241.1:c.*89G>A, XM_005246240.2:c.*89G>A, XM_005246240.1:c.*89G>A, XM_047442891.1:c.*141G>A, XM_047442892.1:c.*89G>A, XM_047442893.1:c.*89G>A, XM_047442894.1:c.*89G>A, XM_047442895.1:c.*89G>A, XM_047442898.1:c.*89G>A, XM_047442896.1:c.*89G>A, XM_047442897.1:c.*89G>A, XM_047442900.1:c.*89G>A

                      11.

                      rs1490886840 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        2:219438195 (GRCh38)
                        2:220302917 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:219438194:A:T
                        Gene:
                        SPEG (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1490811463 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          2:219485116 (GRCh38)
                          2:220349838 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:219485115:G:T
                          Gene:
                          SPEG (Varview), ASIC4-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490731131 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:219455178 (GRCh38)
                            2:220319900 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:219455177:G:A
                            Gene:
                            SPEG (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_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:

                            14.

                            rs1490684386 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              2:219484170 (GRCh38)
                              2:220348892 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:219484169:A:C
                              Gene:
                              SPEG (Varview), ASIC4-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.219484170A>C, NC_000002.11:g.220348892A>C, NG_051022.1:g.54956A>C, NM_005876.5:c.6707A>C, NM_005876.4:c.6707A>C, XM_005246242.5:c.4346A>C, XM_005246242.4:c.4346A>C, XM_005246242.3:c.4346A>C, XM_005246242.2:c.4346A>C, XM_005246242.1:c.4346A>C, XM_006712189.4:c.6395A>C, XM_006712189.3:c.6395A>C, XM_006712189.2:c.6395A>C, XM_006712189.1:c.6395A>C, XM_006712193.4:c.4160A>C, XM_006712193.3:c.4160A>C, XM_006712193.2:c.4160A>C, XM_006712193.1:c.4160A>C, XM_011510479.3:c.6737A>C, XM_011510479.2:c.6737A>C, XM_011510479.1:c.6737A>C, XM_005246237.3:c.6425A>C, XM_005246237.2:c.6425A>C, XM_005246237.1:c.6425A>C, XM_005246239.3:c.4331A>C, XM_005246239.2:c.4331A>C, XM_005246239.1:c.4331A>C, XM_017003159.3:c.6737A>C, XM_017003159.2:c.4331A>C, XM_017003159.1:c.4331A>C, XM_005246241.2:c.4160A>C, XM_005246241.1:c.4160A>C, XM_005246240.2:c.4160A>C, XM_005246240.1:c.4160A>C, XM_047442891.1:c.6737A>C, XM_047442892.1:c.6560A>C, XM_047442893.1:c.6554A>C, XM_047442894.1:c.6530A>C, XM_047442895.1:c.6347A>C, XM_047442898.1:c.4331A>C, XM_047442896.1:c.6248A>C, XM_047442897.1:c.6218A>C, XM_047442900.1:c.4331A>C, NP_005867.3:p.Gln2236Pro, XP_005246299.1:p.Gln1449Pro, XP_006712252.1:p.Gln2132Pro, XP_006712256.1:p.Gln1387Pro, XP_011508781.1:p.Gln2246Pro, XP_005246294.1:p.Gln2142Pro, XP_005246296.1:p.Gln1444Pro, XP_016858648.2:p.Gln2246Pro, XP_005246298.1:p.Gln1387Pro, XP_005246297.1:p.Gln1387Pro, XP_047298847.1:p.Gln2246Pro, XP_047298848.1:p.Gln2187Pro, XP_047298849.1:p.Gln2185Pro, XP_047298850.1:p.Gln2177Pro, XP_047298851.1:p.Gln2116Pro, XP_047298854.1:p.Gln1444Pro, XP_047298852.1:p.Gln2083Pro, XP_047298853.1:p.Gln2073Pro, XP_047298856.1:p.Gln1444Pro

                              15.

                              rs1490657359 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:219445125 (GRCh38)
                                2:220309847 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:219445124:T:C
                                Gene:
                                SPEG (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000002.12:g.219445125T>C, NC_000002.11:g.220309847T>C, NG_051022.1:g.15911T>C, NM_005876.5:c.779T>C, NM_005876.4:c.779T>C, XM_006712189.4:c.467T>C, XM_006712189.3:c.467T>C, XM_006712189.2:c.467T>C, XM_006712189.1:c.467T>C, XM_011510479.3:c.809T>C, XM_011510479.2:c.809T>C, XM_011510479.1:c.809T>C, XM_005246237.3:c.497T>C, XM_005246237.2:c.497T>C, XM_005246237.1:c.497T>C, XM_017003159.3:c.809T>C, XM_017003159.2:c.-1598T>C, XM_017003159.1:c.-1598T>C, XM_017003162.3:c.809T>C, XM_017003162.2:c.-1598T>C, XM_017003162.1:c.-1598T>C, XM_017003161.3:c.809T>C, XM_017003161.2:c.-1598T>C, XM_017003161.1:c.-1598T>C, XM_024452526.2:c.809T>C, XM_024452526.1:c.-1586T>C, XM_047442891.1:c.809T>C, XM_047442893.1:c.809T>C, XM_047442898.1:c.-1598T>C, XM_047442901.1:c.809T>C, XM_047442917.1:c.-1598T>C, XM_047442904.1:c.497T>C, XM_047442905.1:c.467T>C, XM_047442918.1:c.-1598T>C, XM_047442908.1:c.497T>C, XM_047442921.1:c.-1586T>C, XM_047442910.1:c.440T>C, NP_005867.3:p.Phe260Ser, XP_006712252.1:p.Phe156Ser, XP_011508781.1:p.Phe270Ser, XP_005246294.1:p.Phe166Ser, XP_016858648.2:p.Phe270Ser, XP_016858651.2:p.Phe270Ser, XP_016858650.2:p.Phe270Ser, XP_024308294.2:p.Phe270Ser, XP_047298847.1:p.Phe270Ser, XP_047298849.1:p.Phe270Ser, XP_047298857.1:p.Phe270Ser, XP_047298860.1:p.Phe166Ser, XP_047298861.1:p.Phe156Ser, XP_047298864.1:p.Phe166Ser, XP_047298866.1:p.Phe147Ser

                                16.

                                rs1490646538 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:219484715 (GRCh38)
                                  2:220349437 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:219484714:C:T
                                  Gene:
                                  SPEG (Varview), ASIC4-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000015/4 (TOPMED)
                                  T=0.000021/3 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.219484715C>T, NC_000002.11:g.220349437C>T, NG_051022.1:g.55501C>T, NM_005876.5:c.7252C>T, NM_005876.4:c.7252C>T, XM_005246242.5:c.4891C>T, XM_005246242.4:c.4891C>T, XM_005246242.3:c.4891C>T, XM_005246242.2:c.4891C>T, XM_005246242.1:c.4891C>T, XM_006712189.4:c.6940C>T, XM_006712189.3:c.6940C>T, XM_006712189.2:c.6940C>T, XM_006712189.1:c.6940C>T, XM_006712193.4:c.4705C>T, XM_006712193.3:c.4705C>T, XM_006712193.2:c.4705C>T, XM_006712193.1:c.4705C>T, XM_011510479.3:c.7282C>T, XM_011510479.2:c.7282C>T, XM_011510479.1:c.7282C>T, XM_005246237.3:c.6970C>T, XM_005246237.2:c.6970C>T, XM_005246237.1:c.6970C>T, XM_005246239.3:c.4876C>T, XM_005246239.2:c.4876C>T, XM_005246239.1:c.4876C>T, XM_017003159.3:c.7282C>T, XM_017003159.2:c.4876C>T, XM_017003159.1:c.4876C>T, XM_005246241.2:c.4705C>T, XM_005246241.1:c.4705C>T, XM_005246240.2:c.4705C>T, XM_005246240.1:c.4705C>T, XM_047442891.1:c.7282C>T, XM_047442892.1:c.7105C>T, XM_047442893.1:c.7099C>T, XM_047442894.1:c.7075C>T, XM_047442895.1:c.6892C>T, XM_047442898.1:c.4876C>T, XM_047442896.1:c.6793C>T, XM_047442897.1:c.6763C>T, XM_047442900.1:c.4876C>T, NP_005867.3:p.Arg2418Trp, XP_005246299.1:p.Arg1631Trp, XP_006712252.1:p.Arg2314Trp, XP_006712256.1:p.Arg1569Trp, XP_011508781.1:p.Arg2428Trp, XP_005246294.1:p.Arg2324Trp, XP_005246296.1:p.Arg1626Trp, XP_016858648.2:p.Arg2428Trp, XP_005246298.1:p.Arg1569Trp, XP_005246297.1:p.Arg1569Trp, XP_047298847.1:p.Arg2428Trp, XP_047298848.1:p.Arg2369Trp, XP_047298849.1:p.Arg2367Trp, XP_047298850.1:p.Arg2359Trp, XP_047298851.1:p.Arg2298Trp, XP_047298854.1:p.Arg1626Trp, XP_047298852.1:p.Arg2265Trp, XP_047298853.1:p.Arg2255Trp, XP_047298856.1:p.Arg1626Trp

                                  17.

                                  rs1490593583 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    2:219468480 (GRCh38)
                                    2:220333202 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:219468479:G:A,NC_000002.12:219468479:G:C
                                    Gene:
                                    SPEG (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490563896 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      2:219463392 (GRCh38)
                                      2:220328114 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:219463391:A:T
                                      Gene:
                                      SPEG (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.01302/38 (KOREAN)
                                      HGVS:

                                      19.

                                      rs1490557620 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:219467418 (GRCh38)
                                        2:220332140 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:219467417:G:A
                                        Gene:
                                        SPEG (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.219467418G>A, NC_000002.11:g.220332140G>A, NG_051022.1:g.38204G>A, NM_005876.5:c.3126G>A, NM_005876.4:c.3126G>A, XM_005246242.5:c.765G>A, XM_005246242.4:c.765G>A, XM_005246242.3:c.765G>A, XM_005246242.2:c.765G>A, XM_005246242.1:c.765G>A, XM_006712189.4:c.2814G>A, XM_006712189.3:c.2814G>A, XM_006712189.2:c.2814G>A, XM_006712189.1:c.2814G>A, XM_006712193.4:c.579G>A, XM_006712193.3:c.579G>A, XM_006712193.2:c.579G>A, XM_006712193.1:c.579G>A, XM_011510479.3:c.3156G>A, XM_011510479.2:c.3156G>A, XM_011510479.1:c.3156G>A, XM_005246237.3:c.2844G>A, XM_005246237.2:c.2844G>A, XM_005246237.1:c.2844G>A, XM_005246239.3:c.750G>A, XM_005246239.2:c.750G>A, XM_005246239.1:c.750G>A, XM_017003159.3:c.3156G>A, XM_017003159.2:c.750G>A, XM_017003159.1:c.750G>A, XM_005246241.2:c.579G>A, XM_005246241.1:c.579G>A, XM_005246240.2:c.579G>A, XM_005246240.1:c.579G>A, XM_047442891.1:c.3156G>A, XM_047442892.1:c.2979G>A, XM_047442893.1:c.2973G>A, XM_047442894.1:c.2949G>A, XM_047442895.1:c.2766G>A, XM_047442898.1:c.750G>A, XM_047442896.1:c.2667G>A, XM_047442897.1:c.2637G>A, XM_047442900.1:c.750G>A, XM_047442901.1:c.3156G>A

                                        20.

                                        rs1490480645 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          2:219432487 (GRCh38)
                                          2:220297209 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:219432486:T:A,NC_000002.12:219432486:T:C
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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