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Items: 1 to 20 of 16413

1.

rs1491588123 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    10:59215848 (GRCh38)
    10:60975608 (GRCh37)
    Canonical SPDI:
    NC_000010.11:59215846:ACA:A
    Gene:
    PHYHIPL (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000253/3 (ALFA)
    -=0.000176/24 (GnomAD)
    -=0.000318/5 (TOMMO)
    -=0.001638/3 (Korea1K)
    HGVS:

    2.

    rs1491413293 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      10:59180314 (GRCh38)
      10:60940074 (GRCh37)
      Canonical SPDI:
      NC_000010.11:59180313:GT:
      Gene:
      PHYHIPL (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00143/17 (ALFA)
      -=0.00057/16 (TOMMO)
      -=0.00106/50 (GnomAD)
      HGVS:

      3.

      rs1491332255 has merged into rs58992023 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        10:59211676 (GRCh38)
        10:60971436 (GRCh37)
        Canonical SPDI:
        NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        PHYHIPL (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000010.11:g.59211676_59211690del, NC_000010.11:g.59211677_59211690del, NC_000010.11:g.59211678_59211690del, NC_000010.11:g.59211679_59211690del, NC_000010.11:g.59211681_59211690del, NC_000010.11:g.59211682_59211690del, NC_000010.11:g.59211683_59211690del, NC_000010.11:g.59211684_59211690del, NC_000010.11:g.59211685_59211690del, NC_000010.11:g.59211686_59211690del, NC_000010.11:g.59211687_59211690del, NC_000010.11:g.59211688_59211690del, NC_000010.11:g.59211689_59211690del, NC_000010.11:g.59211690del, NC_000010.11:g.59211690dup, NC_000010.11:g.59211689_59211690dup, NC_000010.11:g.59211688_59211690dup, NC_000010.11:g.59211687_59211690dup, NC_000010.11:g.59211686_59211690dup, NC_000010.11:g.59211685_59211690dup, NC_000010.11:g.59211684_59211690dup, NC_000010.11:g.59211683_59211690dup, NC_000010.11:g.59211682_59211690dup, NC_000010.10:g.60971436_60971450del, NC_000010.10:g.60971437_60971450del, NC_000010.10:g.60971438_60971450del, NC_000010.10:g.60971439_60971450del, NC_000010.10:g.60971441_60971450del, NC_000010.10:g.60971442_60971450del, NC_000010.10:g.60971443_60971450del, NC_000010.10:g.60971444_60971450del, NC_000010.10:g.60971445_60971450del, NC_000010.10:g.60971446_60971450del, NC_000010.10:g.60971447_60971450del, NC_000010.10:g.60971448_60971450del, NC_000010.10:g.60971449_60971450del, NC_000010.10:g.60971450del, NC_000010.10:g.60971450dup, NC_000010.10:g.60971449_60971450dup, NC_000010.10:g.60971448_60971450dup, NC_000010.10:g.60971447_60971450dup, NC_000010.10:g.60971446_60971450dup, NC_000010.10:g.60971445_60971450dup, NC_000010.10:g.60971444_60971450dup, NC_000010.10:g.60971443_60971450dup, NC_000010.10:g.60971442_60971450dup

        4.

        rs1491252242 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTATAT,GTATATAT,GTATATATATATAT,GTGTGTATAT,GTGTGTATATAT,GTGTGTATATATAT,GTGTGTATATATATAT,GTGTGTATATATATATATATAT,GTGTGTGTATAT,GTGTGTGTATATAT,GTGTGTGTATATATAT,GTGTGTGTATATATATAT,GTGTGTGTGTATAT,GTGTGTGTGTATATAT,GTGTGTGTGTATATATAT [Show Flanks]
          Chromosome:
          10:59180314 (GRCh38)
          10:60940075 (GRCh37)
          Canonical SPDI:
          NC_000010.11:59180314:TAT:TATGTATAT,NC_000010.11:59180314:TAT:TATGTATATAT,NC_000010.11:59180314:TAT:TATGTATATATATATAT,NC_000010.11:59180314:TAT:TATGTGTGTATAT,NC_000010.11:59180314:TAT:TATGTGTGTATATAT,NC_000010.11:59180314:TAT:TATGTGTGTATATATAT,NC_000010.11:59180314:TAT:TATGTGTGTATATATATAT,NC_000010.11:59180314:TAT:TATGTGTGTATATATATATATATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTATATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTATATATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTATATATATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTGTATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTGTATATAT,NC_000010.11:59180314:TAT:TATGTGTGTGTGTATATATAT
          Gene:
          PHYHIPL (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATGTGTGTATAT=0./0 (ALFA)
          TATGTGTGTGTGTATA=0.000004/1 (TOPMED)
          HGVS:
          NC_000010.11:g.59180317_59180318insGTATAT, NC_000010.11:g.59180317_59180318insGTATATAT, NC_000010.11:g.59180317_59180318insGTATATATATATAT, NC_000010.11:g.59180317_59180318insGTGTGTATAT, NC_000010.11:g.59180317_59180318insGTGTGTATATAT, NC_000010.11:g.59180317_59180318insGTGTGTATATATAT, NC_000010.11:g.59180317_59180318insGTGTGTATATATATAT, NC_000010.11:g.59180317_59180318insGTGTGTATATATATATATATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTATATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTATATATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTATATATATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTGTATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTGTATATAT, NC_000010.11:g.59180317_59180318insGTGTGTGTGTATATATAT, NC_000010.10:g.60940077_60940078insGTATAT, NC_000010.10:g.60940077_60940078insGTATATAT, NC_000010.10:g.60940077_60940078insGTATATATATATAT, NC_000010.10:g.60940077_60940078insGTGTGTATAT, NC_000010.10:g.60940077_60940078insGTGTGTATATAT, NC_000010.10:g.60940077_60940078insGTGTGTATATATAT, NC_000010.10:g.60940077_60940078insGTGTGTATATATATAT, NC_000010.10:g.60940077_60940078insGTGTGTATATATATATATATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTATATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTATATATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTATATATATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTGTATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTGTATATAT, NC_000010.10:g.60940077_60940078insGTGTGTGTGTATATATAT

          5.

          rs1491236495 has merged into rs1337406522 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAA>-,A,AAA,AAAA,AAAAAA [Show Flanks]
            Chromosome:
            10:59224497 (GRCh38)
            10:60984257 (GRCh37)
            Canonical SPDI:
            NC_000010.11:59224495:AAAAAA:A,NC_000010.11:59224495:AAAAAA:AA,NC_000010.11:59224495:AAAAAA:AAAA,NC_000010.11:59224495:AAAAAA:AAAAA,NC_000010.11:59224495:AAAAAA:AAAAAAA
            Gene:
            PHYHIPL (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            -=0.00164/3 (Korea1K)
            -=0.00502/3 (NorthernSweden)
            -=0.02589/434 (TOMMO)
            HGVS:

            6.

            rs1491205646 has merged into rs1554799094 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>-,ATACATATATATATATATATATAT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAGATATATATATATATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATGTATATATATATATATATATAT,ATATATATATATGTATATATATATATATATATAT,ATATATATATATGTATATATATATATATATATATAT,ATATATATATGTATATATATATATATATATAT,ATATATGTATATATATATATATATATAT [Show Flanks]
              Chromosome:
              10:59227986 (GRCh38)
              10:60987746 (GRCh37)
              Canonical SPDI:
              NC_000010.11:59227975:ATATATATATAT:ATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATACATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATAGATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATATATGTATATATATATATATATATAT,NC_000010.11:59227975:ATATATATATAT:ATATATATATATATATGTATATATATATATATATATAT
              Gene:
              PHYHIPL (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATATATACATATATATATATATATATAT=0./0 (ALFA)
              -=0.00378/14 (TWINSUK)
              -=0.00597/23 (ALSPAC)
              ATAT=0.00719/36 (1000Genomes)
              HGVS:
              NC_000010.11:g.59227976AT[5], NC_000010.11:g.59227976_59227987AT[6]ACATATATATATATATATATAT[1], NC_000010.11:g.59227976AT[7], NC_000010.11:g.59227976AT[8], NC_000010.11:g.59227976AT[9], NC_000010.11:g.59227976AT[10], NC_000010.11:g.59227976AT[11], NC_000010.11:g.59227976_59227987AT[11]AGATATATATATATATATATATATAT[1], NC_000010.11:g.59227976AT[12], NC_000010.11:g.59227976AT[13], NC_000010.11:g.59227976AT[14], NC_000010.11:g.59227976AT[15], NC_000010.11:g.59227976AT[16], NC_000010.11:g.59227976AT[17], NC_000010.11:g.59227976AT[18], NC_000010.11:g.59227976AT[19], NC_000010.11:g.59227976AT[20], NC_000010.11:g.59227976AT[21], NC_000010.11:g.59227976AT[22], NC_000010.11:g.59227976AT[23], NC_000010.11:g.59227976AT[24], NC_000010.11:g.59227976AT[25], NC_000010.11:g.59227976AT[26], NC_000010.11:g.59227976AT[27], NC_000010.11:g.59227976AT[29], NC_000010.11:g.59227976_59227987AT[12]GTATATATATATATATATATAT[1], NC_000010.11:g.59227976_59227987AT[11]GTATATATATATATATATATAT[1], NC_000010.11:g.59227976_59227987AT[11]GTATATATATATATATATATATAT[1], NC_000010.11:g.59227976_59227987AT[10]GTATATATATATATATATATAT[1], NC_000010.11:g.59227976_59227987AT[8]GTATATATATATATATATATAT[1], NC_000010.10:g.60987736AT[5], NC_000010.10:g.60987736_60987747AT[6]ACATATATATATATATATATAT[1], NC_000010.10:g.60987736AT[7], NC_000010.10:g.60987736AT[8], NC_000010.10:g.60987736AT[9], NC_000010.10:g.60987736AT[10], NC_000010.10:g.60987736AT[11], NC_000010.10:g.60987736_60987747AT[11]AGATATATATATATATATATATATAT[1], NC_000010.10:g.60987736AT[12], NC_000010.10:g.60987736AT[13], NC_000010.10:g.60987736AT[14], NC_000010.10:g.60987736AT[15], NC_000010.10:g.60987736AT[16], NC_000010.10:g.60987736AT[17], NC_000010.10:g.60987736AT[18], NC_000010.10:g.60987736AT[19], NC_000010.10:g.60987736AT[20], NC_000010.10:g.60987736AT[21], NC_000010.10:g.60987736AT[22], NC_000010.10:g.60987736AT[23], NC_000010.10:g.60987736AT[24], NC_000010.10:g.60987736AT[25], NC_000010.10:g.60987736AT[26], NC_000010.10:g.60987736AT[27], NC_000010.10:g.60987736AT[29], NC_000010.10:g.60987736_60987747AT[12]GTATATATATATATATATATAT[1], NC_000010.10:g.60987736_60987747AT[11]GTATATATATATATATATATAT[1], NC_000010.10:g.60987736_60987747AT[11]GTATATATATATATATATATATAT[1], NC_000010.10:g.60987736_60987747AT[10]GTATATATATATATATATATAT[1], NC_000010.10:g.60987736_60987747AT[8]GTATATATATATATATATATAT[1]

              7.

              rs1491059586 has merged into rs140480148 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
                Chromosome:
                10:59180271 (GRCh38)
                10:60940031 (GRCh37)
                Canonical SPDI:
                NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:59180257:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA
                Gene:
                PHYHIPL (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ACACACACACACACA=0./0 (ALFA)
                AC=0.09585/480 (1000Genomes)
                ACACAC=0.25/10 (GENOME_DK)
                HGVS:

                8.

                rs1490971138 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:59192599 (GRCh38)
                  10:60952359 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:59192598:C:T
                  Gene:
                  PHYHIPL (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1490966939 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GGT>- [Show Flanks]
                    Chromosome:
                    10:59228438 (GRCh38)
                    10:60988198 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:59228435:GTGGT:GT
                    Gene:
                    PHYHIPL (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GT=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    -=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1490947276 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:59179539 (GRCh38)
                      10:60939299 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:59179538:T:C
                      Gene:
                      PHYHIPL (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490911078 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        10:59208806 (GRCh38)
                        10:60968566 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:59208805:C:G
                        Gene:
                        PHYHIPL (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1490883425 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:59225496 (GRCh38)
                          10:60985256 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:59225495:C:T
                          Gene:
                          PHYHIPL (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)
                          HGVS:

                          13.

                          rs1490873164 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            10:59173431 (GRCh38)
                            10:60933191 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:59173430:T:G
                            Gene:
                            PHYHIPL (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000671/3 (ALFA)
                            G=0.000021/3 (GnomAD)
                            G=0.00067/3 (Estonian)
                            HGVS:

                            14.

                            rs1490788921 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:59206136 (GRCh38)
                              10:60965896 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:59206135:T:C
                              Gene:
                              PHYHIPL (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000021/3 (GnomAD)
                              HGVS:

                              15.

                              rs1490781061 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:59214669 (GRCh38)
                                10:60974429 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:59214668:C:T
                                Gene:
                                PHYHIPL (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000026/7 (TOPMED)
                                HGVS:

                                16.

                                rs1490757049 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  10:59246916 (GRCh38)
                                  10:61006676 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:59246915:A:T
                                  Gene:
                                  PHYHIPL (Varview), FAM13C (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000224/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000010.11:g.59246916A>T, NC_000010.10:g.61006676A>T, NG_053188.1:g.121272T>A, NM_198215.4:c.*698T>A, NM_198215.3:c.*699T>A, NM_001001971.3:c.*698T>A, NM_001001971.2:c.*699T>A, NM_001347850.2:c.*698T>A, NM_001347850.1:c.*699T>A, NM_001166698.2:c.*698T>A, NM_001166698.1:c.*699T>A, NM_001347840.2:c.*698T>A, NM_001347840.1:c.*699T>A, NM_001347842.2:c.*698T>A, NM_001347842.1:c.*699T>A, NM_001347848.1:c.*699T>A, NM_001347847.1:c.*699T>A, NM_001347844.1:c.*699T>A, NM_001143773.1:c.*699T>A, NM_001347843.1:c.*699T>A, NM_001347845.1:c.*699T>A, XM_005269618.5:c.*698T>A, XM_005269618.4:c.*698T>A, XM_005269618.3:c.*698T>A, XM_005269618.2:c.*698T>A, XM_005269618.1:c.*698T>A, XM_005269619.5:c.*698T>A, XM_005269619.4:c.*698T>A, XM_005269619.3:c.*698T>A, XM_005269619.2:c.*698T>A, XM_005269619.1:c.*698T>A, XM_011540276.4:c.*1325A>T, XM_011540276.3:c.*1325A>T, XM_011540276.2:c.*1325A>T, XM_011540276.1:c.*1325A>T, XM_011540275.4:c.*1325A>T, XM_011540275.3:c.*1325A>T, XM_011540275.2:c.*1325A>T, XM_011540275.1:c.*1325A>T, NM_032439.4:c.*1325A>T, NM_032439.3:c.*1325A>T, XM_006717702.4:c.*698T>A, XM_006717702.3:c.*698T>A, XM_006717702.2:c.*698T>A, XM_006717702.1:c.*698T>A, XM_017016783.3:c.*1325A>T, XM_017016783.2:c.*1325A>T, XM_017016783.1:c.*1325A>T, XM_024447880.2:c.*698T>A, XM_024447880.1:c.*698T>A, NM_001143774.2:c.*1325A>T, NM_001143774.1:c.*1325A>T, XM_017015886.2:c.*698T>A, XM_017015886.1:c.*698T>A, XM_017016782.2:c.*1325A>T, XM_017016782.1:c.*1325A>T, XM_017015891.2:c.*698T>A, XM_017015891.1:c.*698T>A, XM_024447881.2:c.*698T>A, XM_024447881.1:c.*698T>A, XM_047424761.1:c.*698T>A

                                  17.

                                  rs1490708458 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:59232260 (GRCh38)
                                    10:60992020 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:59232259:G:A
                                    Gene:
                                    PHYHIPL (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490706778 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:59216951 (GRCh38)
                                      10:60976711 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:59216950:G:A
                                      Gene:
                                      PHYHIPL (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)
                                      A=0.000156/1 (1000Genomes)
                                      HGVS:

                                      19.

                                      rs1490609155 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:59201335 (GRCh38)
                                        10:60961095 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:59201334:C:T
                                        Gene:
                                        PHYHIPL (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1490565486 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          10:59192061 (GRCh38)
                                          10:60951821 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:59192060:T:G
                                          Gene:
                                          PHYHIPL (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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