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1.

rs1491469621 has merged into rs75613554 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT [Show Flanks]
    Chromosome:
    1:153623398 (GRCh38)
    1:153595874 (GRCh37)
    Canonical SPDI:
    NC_000001.11:153623386:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:153623386:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:153623386:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:153623386:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
    Gene:
    S100A13 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    -=0.15/6 (GENOME_DK)
    HGVS:

    2.

    rs1491418980 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      1:153634865 (GRCh38)
      1:153607341 (GRCh37)
      Canonical SPDI:
      NC_000001.11:153634864:TG:
      Gene:
      S100A13 (Varview), CHTOP (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00008/1 (ALFA)
      -=0.00011/2 (TOMMO)
      -=0.00026/24 (GnomAD)
      HGVS:

      3.

      rs1491405099 has merged into rs5777875 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
        Chromosome:
        1:153634871 (GRCh38)
        1:153607347 (GRCh37)
        Canonical SPDI:
        NC_000001.11:153634865:GGGGGGGG:GGGGG,NC_000001.11:153634865:GGGGGGGG:GGGGGG,NC_000001.11:153634865:GGGGGGGG:GGGGGGG,NC_000001.11:153634865:GGGGGGGG:GGGGGGGGG,NC_000001.11:153634865:GGGGGGGG:GGGGGGGGGG,NC_000001.11:153634865:GGGGGGGG:GGGGGGGGGGG
        Gene:
        S100A13 (Varview), CHTOP (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGGGGGG=0./0 (ALFA)
        GG=0.000004/1 (TOPMED)
        -=0.325/13 (GENOME_DK)
        -=0.431265/1807 (Estonian)
        G=0.48123/2410 (1000Genomes)
        HGVS:

        4.

        rs1491326736 has merged into rs397863604 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          1:153632278 (GRCh38)
          1:153604754 (GRCh37)
          Canonical SPDI:
          NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:153632266:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          S100A1 (Varview), S100A13 (Varview), CHTOP (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.153632278_153632288del, NC_000001.11:g.153632279_153632288del, NC_000001.11:g.153632280_153632288del, NC_000001.11:g.153632282_153632288del, NC_000001.11:g.153632283_153632288del, NC_000001.11:g.153632284_153632288del, NC_000001.11:g.153632285_153632288del, NC_000001.11:g.153632286_153632288del, NC_000001.11:g.153632287_153632288del, NC_000001.11:g.153632288del, NC_000001.11:g.153632288dup, NC_000001.11:g.153632287_153632288dup, NC_000001.11:g.153632286_153632288dup, NC_000001.11:g.153632285_153632288dup, NC_000001.11:g.153632284_153632288dup, NC_000001.11:g.153632283_153632288dup, NC_000001.11:g.153632281_153632288dup, NC_000001.11:g.153632280_153632288dup, NC_000001.11:g.153632273_153632288dup, NC_000001.10:g.153604754_153604764del, NC_000001.10:g.153604755_153604764del, NC_000001.10:g.153604756_153604764del, NC_000001.10:g.153604758_153604764del, NC_000001.10:g.153604759_153604764del, NC_000001.10:g.153604760_153604764del, NC_000001.10:g.153604761_153604764del, NC_000001.10:g.153604762_153604764del, NC_000001.10:g.153604763_153604764del, NC_000001.10:g.153604764del, NC_000001.10:g.153604764dup, NC_000001.10:g.153604763_153604764dup, NC_000001.10:g.153604762_153604764dup, NC_000001.10:g.153604761_153604764dup, NC_000001.10:g.153604760_153604764dup, NC_000001.10:g.153604759_153604764dup, NC_000001.10:g.153604757_153604764dup, NC_000001.10:g.153604756_153604764dup, NC_000001.10:g.153604749_153604764dup, NG_030030.1:g.3297_3307del, NG_030030.1:g.3298_3307del, NG_030030.1:g.3299_3307del, NG_030030.1:g.3301_3307del, NG_030030.1:g.3302_3307del, NG_030030.1:g.3303_3307del, NG_030030.1:g.3304_3307del, NG_030030.1:g.3305_3307del, NG_030030.1:g.3306_3307del, NG_030030.1:g.3307del, NG_030030.1:g.3307dup, NG_030030.1:g.3306_3307dup, NG_030030.1:g.3305_3307dup, NG_030030.1:g.3304_3307dup, NG_030030.1:g.3303_3307dup, NG_030030.1:g.3302_3307dup, NG_030030.1:g.3300_3307dup, NG_030030.1:g.3299_3307dup, NG_030030.1:g.3292_3307dup

          5.

          rs1491083790 has merged into rs34952512 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            1:153624559 (GRCh38)
            1:153597035 (GRCh37)
            Canonical SPDI:
            NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:153624547:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            S100A13 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            AAAAAAAAAAAAAAAAAAAAAA=0.00339/2 (NorthernSweden)
            HGVS:
            NC_000001.11:g.153624559_153624563del, NC_000001.11:g.153624561_153624563del, NC_000001.11:g.153624562_153624563del, NC_000001.11:g.153624563del, NC_000001.11:g.153624563dup, NC_000001.11:g.153624562_153624563dup, NC_000001.11:g.153624561_153624563dup, NC_000001.11:g.153624555_153624563dup, NC_000001.11:g.153624553_153624563dup, NC_000001.11:g.153624549_153624563dup, NC_000001.11:g.153624563_153624564insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.153597035_153597039del, NC_000001.10:g.153597037_153597039del, NC_000001.10:g.153597038_153597039del, NC_000001.10:g.153597039del, NC_000001.10:g.153597039dup, NC_000001.10:g.153597038_153597039dup, NC_000001.10:g.153597037_153597039dup, NC_000001.10:g.153597031_153597039dup, NC_000001.10:g.153597029_153597039dup, NC_000001.10:g.153597025_153597039dup, NC_000001.10:g.153597039_153597040insAAAAAAAAAAAAAAAAAAAAAA

            6.

            rs1490750666 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:153635150 (GRCh38)
              1:153607626 (GRCh37)
              Canonical SPDI:
              NC_000001.11:153635149:C:T
              Gene:
              S100A13 (Varview), CHTOP (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1490565349 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:153619596 (GRCh38)
                1:153592072 (GRCh37)
                Canonical SPDI:
                NC_000001.11:153619595:T:C
                Gene:
                S100A13 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1490495110 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:153621620 (GRCh38)
                  1:153594096 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:153621619:G:A
                  Gene:
                  S100A13 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000015/4 (TOPMED)
                  A=0.00006/1 (TOMMO)
                  HGVS:

                  9.

                  rs1490443230 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:153628050 (GRCh38)
                    1:153600526 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:153628049:G:A
                    Gene:
                    S100A1 (Varview), S100A13 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490342079 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:153634818 (GRCh38)
                      1:153607294 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:153634817:A:G
                      Gene:
                      S100A13 (Varview), CHTOP (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000223/59 (TOPMED)
                      G=0.000418/58 (GnomAD)
                      HGVS:

                      11.

                      rs1490190177 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:153622524 (GRCh38)
                        1:153595000 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:153622523:G:C
                        Gene:
                        S100A13 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1489898617 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:153628036 (GRCh38)
                          1:153600512 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:153628035:C:T
                          Gene:
                          S100A1 (Varview), S100A13 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_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:

                          13.

                          rs1489646258 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:153635152 (GRCh38)
                            1:153607628 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:153635151:G:A
                            Gene:
                            S100A13 (Varview), CHTOP (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000008/1 (GnomAD)
                            HGVS:

                            14.

                            rs1489226828 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              1:153623452 (GRCh38)
                              1:153595928 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:153623451:C:G,NC_000001.11:153623451:C:T
                              Gene:
                              S100A13 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1489176891 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                1:153621416 (GRCh38)
                                1:153593892 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:153621415:AAAA:AAA
                                Gene:
                                S100A13 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAA=0./0 (ALFA)
                                -=0.000023/6 (TOPMED)
                                -=0.000036/5 (GnomAD)
                                -=0.000312/2 (1000Genomes)
                                HGVS:

                                16.

                                rs1488976242 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:153632664 (GRCh38)
                                  1:153605140 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:153632663:C:G
                                  Gene:
                                  S100A13 (Varview), CHTOP (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1488769866 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:153630013 (GRCh38)
                                    1:153602489 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:153630012:G:A
                                    Gene:
                                    S100A1 (Varview), S100A13 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1488702469 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:153626396 (GRCh38)
                                      1:153598872 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:153626395:T:G
                                      Gene:
                                      S100A13 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.153626396T>G, NC_000001.10:g.153598872T>G, XM_011509862.4:c.77A>C, XM_011509862.3:c.77A>C, XM_011509862.2:c.77A>C, XM_011509862.1:c.77A>C, XM_005245434.4:c.77A>C, XM_005245434.3:c.77A>C, XM_005245434.2:c.77A>C, XM_005245434.1:c.77A>C, XM_017002035.3:c.77A>C, XM_017002035.2:c.77A>C, XM_017002035.1:c.77A>C, XM_017002034.3:c.77A>C, XM_017002034.2:c.77A>C, XM_017002034.1:c.77A>C, NM_005979.3:c.77A>C, NM_005979.2:c.77A>C, NM_001024210.2:c.77A>C, NM_001024210.1:c.77A>C, NM_001024213.2:c.77A>C, NM_001024213.1:c.77A>C, XM_017002036.2:c.77A>C, XM_017002036.1:c.77A>C, NM_001024212.2:c.77A>C, NM_001024212.1:c.77A>C, NM_001024211.2:c.77A>C, NM_001024211.1:c.77A>C, XM_047427409.1:c.77A>C, XM_047427401.1:c.77A>C, XM_047427439.1:c.77A>C, XM_047427444.1:c.77A>C, XM_047427445.1:c.77A>C, XM_047427407.1:c.77A>C, XM_047427408.1:c.77A>C, XM_047427410.1:c.77A>C, XM_047427406.1:c.77A>C, XM_047427433.1:c.77A>C, XM_047427404.1:c.77A>C, XM_047427435.1:c.77A>C, XM_047427413.1:c.77A>C, XM_047427446.1:c.77A>C, XM_047427417.1:c.77A>C, XM_047427419.1:c.77A>C, XP_011508164.1:p.Gln26Pro, XP_005245491.1:p.Gln26Pro, XP_016857524.1:p.Gln26Pro, XP_016857523.1:p.Gln26Pro, NP_005970.1:p.Gln26Pro, NP_001019381.1:p.Gln26Pro, NP_001019384.1:p.Gln26Pro, XP_016857525.1:p.Gln26Pro, NP_001019383.1:p.Gln26Pro, NP_001019382.1:p.Gln26Pro, XP_047283365.1:p.Gln26Pro, XP_047283357.1:p.Gln26Pro, XP_047283395.1:p.Gln26Pro, XP_047283400.1:p.Gln26Pro, XP_047283401.1:p.Gln26Pro, XP_047283363.1:p.Gln26Pro, XP_047283364.1:p.Gln26Pro, XP_047283366.1:p.Gln26Pro, XP_047283362.1:p.Gln26Pro, XP_047283389.1:p.Gln26Pro, XP_047283360.1:p.Gln26Pro, XP_047283391.1:p.Gln26Pro, XP_047283369.1:p.Gln26Pro, XP_047283402.1:p.Gln26Pro, XP_047283373.1:p.Gln26Pro, XP_047283375.1:p.Gln26Pro

                                      19.

                                      rs1488687290 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:153618557 (GRCh38)
                                        1:153591033 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:153618556:A:T
                                        Gene:
                                        S100A13 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000019/5 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1488651629 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:153625361 (GRCh38)
                                          1:153597837 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:153625360:A:G
                                          Gene:
                                          S100A13 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0./0 (KOREAN)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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