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Items: 1 to 20 of 1000

1.

rs1491394585 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
    Chromosome:
    16:4804934 (GRCh38)
    16:4854936 (GRCh37)
    Canonical SPDI:
    NC_000016.10:4804934:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
    Gene:
    GLYR1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG=0.00007/2 (GnomAD)
    HGVS:
    NC_000016.10:g.4804935_4804971GT[22]GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG[1], NC_000016.9:g.4854936_4854972GT[22]GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG[1], NG_032174.1:g.2980_3016CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NG_075995.1:g.348_384GT[22]GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG[1], NM_032569.4:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_032569.3:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136700.2:n.2016_2052CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136700.1:n.2116_2152CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001308096.2:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001308096.1:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001324098.2:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001324098.1:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136695.2:n.2149_2185CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136695.1:n.2249_2285CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001324097.2:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001324097.1:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001324096.2:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NM_001324096.1:c.*265_*301CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136697.2:n.1950_1986CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136697.1:n.2050_2086CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136696.2:n.1932_1968CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136696.1:n.2032_2068CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136699.2:n.1899_1935CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136699.1:n.1999_2035CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136698.2:n.1881_1917CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1], NR_136698.1:n.1981_2017CA[18]CCCACACACACACACACACACACACACACACACACACACACACACAC[1]

    2.

    rs1491144084 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      16:4804933 (GRCh38)
      16:4854934 (GRCh37)
      Canonical SPDI:
      NC_000016.10:4804932:CT:
      Gene:
      GLYR1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000038/4 (GnomAD)
      HGVS:

      3.

      rs1490853280 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        16:4801348 (GRCh38)
        16:4851349 (GRCh37)
        Canonical SPDI:
        NC_000016.10:4801347:C:A
        Gene:
        ROGDI (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000094/1 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.001274/21 (TOMMO)
        HGVS:

        4.

        rs1490495124 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          16:4804666 (GRCh38)
          16:4854667 (GRCh37)
          Canonical SPDI:
          NC_000016.10:4804665:C:
          Gene:
          GLYR1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000008/2 (TOPMED)
          HGVS:

          5.

          rs1490485746 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            16:4800206 (GRCh38)
            16:4850207 (GRCh37)
            Canonical SPDI:
            NC_000016.10:4800205:G:C,NC_000016.10:4800205:G:T
            Gene:
            ROGDI (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            HGVS:

            6.

            rs1489986132 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              16:4802563 (GRCh38)
              16:4852564 (GRCh37)
              Canonical SPDI:
              NC_000016.10:4802562:G:A,NC_000016.10:4802562:G:C,NC_000016.10:4802562:G:T
              Gene:
              ROGDI (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000016.10:g.4802563G>A, NC_000016.10:g.4802563G>C, NC_000016.10:g.4802563G>T, NC_000016.9:g.4852564G>A, NC_000016.9:g.4852564G>C, NC_000016.9:g.4852564G>T, NG_032174.1:g.5388C>T, NG_032174.1:g.5388C>G, NG_032174.1:g.5388C>A, NM_024589.3:c.9C>T, NM_024589.3:c.9C>G, NM_024589.3:c.9C>A, NM_024589.2:c.9C>T, NM_024589.2:c.9C>G, NM_024589.2:c.9C>A, NR_046480.2:n.71C>T, NR_046480.2:n.71C>G, NR_046480.2:n.71C>A, NR_046480.1:n.388C>T, NR_046480.1:n.388C>G, NR_046480.1:n.388C>A, XM_006720947.5:c.9C>T, XM_006720947.5:c.9C>G, XM_006720947.5:c.9C>A, XM_006720947.4:c.9C>T, XM_006720947.4:c.9C>G, XM_006720947.4:c.9C>A, XM_006720947.3:c.9C>T, XM_006720947.3:c.9C>G, XM_006720947.3:c.9C>A, XM_006720947.2:c.9C>T, XM_006720947.2:c.9C>G, XM_006720947.2:c.9C>A, XM_006720947.1:c.9C>T, XM_006720947.1:c.9C>G, XM_006720947.1:c.9C>A

              7.

              rs1489936804 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:4799578 (GRCh38)
                16:4849579 (GRCh37)
                Canonical SPDI:
                NC_000016.10:4799577:T:C
                Gene:
                ROGDI (Varview)
                Functional Consequence:
                intron_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.

                rs1489685289 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  16:4802615 (GRCh38)
                  16:4852616 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:4802614:C:A,NC_000016.10:4802614:C:T
                  Gene:
                  ROGDI (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  HGVS:

                  9.

                  rs1489562544 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:4799017 (GRCh38)
                    16:4849018 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:4799016:T:C
                    Gene:
                    ROGDI (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1489428695 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:4801017 (GRCh38)
                      16:4851018 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:4801016:C:T
                      Gene:
                      ROGDI (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1489148859 has merged into rs143624351 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                        Chromosome:
                        16:4804946 (GRCh38)
                        16:4854947 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:4804933:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                        Gene:
                        GLYR1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTGTGTG=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.4804934TG[6], NC_000016.10:g.4804934TG[7], NC_000016.10:g.4804934TG[8], NC_000016.10:g.4804934TG[9], NC_000016.10:g.4804934TG[10], NC_000016.10:g.4804934TG[11], NC_000016.10:g.4804934TG[12], NC_000016.10:g.4804934TG[13], NC_000016.10:g.4804934TG[14], NC_000016.10:g.4804934TG[15], NC_000016.10:g.4804934TG[16], NC_000016.10:g.4804934TG[17], NC_000016.10:g.4804934TG[18], NC_000016.10:g.4804934TG[20], NC_000016.10:g.4804934TG[21], NC_000016.10:g.4804934TG[22], NC_000016.10:g.4804934TG[23], NC_000016.10:g.4804934TG[24], NC_000016.10:g.4804934TG[25], NC_000016.10:g.4804934TG[26], NC_000016.10:g.4804934TG[27], NC_000016.10:g.4804934TG[28], NC_000016.10:g.4804934TG[29], NC_000016.10:g.4804934TG[30], NC_000016.10:g.4804934TG[31], NC_000016.10:g.4804934TG[32], NC_000016.10:g.4804934TG[33], NC_000016.10:g.4804934TG[34], NC_000016.10:g.4804934TG[35], NC_000016.10:g.4804934TG[36], NC_000016.10:g.4804934TG[37], NC_000016.10:g.4804934TG[38], 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NR_136699.1:n.1999CA[30], NR_136699.1:n.1999CA[31], NR_136699.1:n.1999CA[32], NR_136699.1:n.1999CA[33], NR_136699.1:n.1999CA[34], NR_136699.1:n.1999CA[35], NR_136699.1:n.1999CA[36], NR_136699.1:n.1999CA[37], NR_136699.1:n.1999CA[38], NR_136699.1:n.1999CA[39], NR_136699.1:n.1999CA[40], NR_136699.1:n.1999CA[41], NR_136699.1:n.1999CA[42], NR_136699.1:n.1999CA[43], NR_136699.1:n.1999CA[44], NR_136699.1:n.1999CA[45], NR_136699.1:n.1999CA[46], NR_136698.2:n.1881CA[6], NR_136698.2:n.1881CA[7], NR_136698.2:n.1881CA[8], NR_136698.2:n.1881CA[9], NR_136698.2:n.1881CA[10], NR_136698.2:n.1881CA[11], NR_136698.2:n.1881CA[12], NR_136698.2:n.1881CA[13], NR_136698.2:n.1881CA[14], NR_136698.2:n.1881CA[15], NR_136698.2:n.1881CA[16], NR_136698.2:n.1881CA[17], NR_136698.2:n.1881CA[18], NR_136698.2:n.1881CA[20], NR_136698.2:n.1881CA[21], NR_136698.2:n.1881CA[22], NR_136698.2:n.1881CA[23], NR_136698.2:n.1881CA[24], NR_136698.2:n.1881CA[25], NR_136698.2:n.1881CA[26], NR_136698.2:n.1881CA[27], NR_136698.2:n.1881CA[28], NR_136698.2:n.1881CA[29], NR_136698.2:n.1881CA[30], NR_136698.2:n.1881CA[31], NR_136698.2:n.1881CA[32], NR_136698.2:n.1881CA[33], NR_136698.2:n.1881CA[34], NR_136698.2:n.1881CA[35], NR_136698.2:n.1881CA[36], NR_136698.2:n.1881CA[37], NR_136698.2:n.1881CA[38], NR_136698.2:n.1881CA[39], NR_136698.2:n.1881CA[40], NR_136698.2:n.1881CA[41], NR_136698.2:n.1881CA[42], NR_136698.2:n.1881CA[43], NR_136698.2:n.1881CA[44], NR_136698.2:n.1881CA[45], NR_136698.2:n.1881CA[46], NR_136698.1:n.1981CA[6], NR_136698.1:n.1981CA[7], NR_136698.1:n.1981CA[8], NR_136698.1:n.1981CA[9], NR_136698.1:n.1981CA[10], NR_136698.1:n.1981CA[11], NR_136698.1:n.1981CA[12], NR_136698.1:n.1981CA[13], NR_136698.1:n.1981CA[14], NR_136698.1:n.1981CA[15], NR_136698.1:n.1981CA[16], NR_136698.1:n.1981CA[17], NR_136698.1:n.1981CA[18], NR_136698.1:n.1981CA[20], NR_136698.1:n.1981CA[21], NR_136698.1:n.1981CA[22], NR_136698.1:n.1981CA[23], NR_136698.1:n.1981CA[24], NR_136698.1:n.1981CA[25], NR_136698.1:n.1981CA[26], NR_136698.1:n.1981CA[27], NR_136698.1:n.1981CA[28], NR_136698.1:n.1981CA[29], NR_136698.1:n.1981CA[30], NR_136698.1:n.1981CA[31], NR_136698.1:n.1981CA[32], NR_136698.1:n.1981CA[33], NR_136698.1:n.1981CA[34], NR_136698.1:n.1981CA[35], NR_136698.1:n.1981CA[36], NR_136698.1:n.1981CA[37], NR_136698.1:n.1981CA[38], NR_136698.1:n.1981CA[39], NR_136698.1:n.1981CA[40], NR_136698.1:n.1981CA[41], NR_136698.1:n.1981CA[42], NR_136698.1:n.1981CA[43], NR_136698.1:n.1981CA[44], NR_136698.1:n.1981CA[45], NR_136698.1:n.1981CA[46]

                        12.

                        rs1488896161 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:4801112 (GRCh38)
                          16:4851113 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:4801111:G:A
                          Gene:
                          ROGDI (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:

                          13.

                          rs1488805150 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            16:4798738 (GRCh38)
                            16:4848739 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:4798737:A:C,NC_000016.10:4798737:A:G
                            Gene:
                            ROGDI (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1488792560 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              16:4801679 (GRCh38)
                              16:4851680 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:4801678:G:C,NC_000016.10:4801678:G:T
                              Gene:
                              ROGDI (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1488445231 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:4800317 (GRCh38)
                                16:4850318 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:4800316:C:T
                                Gene:
                                ROGDI (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000019/5 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:

                                16.

                                rs1488281876 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:4801761 (GRCh38)
                                  16:4851762 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:4801760:G:A
                                  Gene:
                                  ROGDI (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000034/9 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1488046263 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:4801038 (GRCh38)
                                    16:4851039 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:4801037:G:A
                                    Gene:
                                    ROGDI (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1487836834 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:4799810 (GRCh38)
                                      16:4849811 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:4799809:A:G
                                      Gene:
                                      ROGDI (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1487819972 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:4797830 (GRCh38)
                                        16:4847831 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:4797829:A:G
                                        Gene:
                                        ROGDI (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1487689714 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:4804418 (GRCh38)
                                          16:4854419 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:4804417:C:T
                                          Gene:
                                          ROGDI (Varview), GLYR1 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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