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Items: 1 to 20 of 5288

1.

rs171978 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    14:56801725 (GRCh38)
    14:57268443 (GRCh37)
    Canonical SPDI:
    NC_000014.9:56801724:C:T
    Gene:
    OTX2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant
    Clinical significance:
    likely-benign,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.093009/14842 (ALFA)
    T=0.032636/163 (1000Genomes)
    T=0.049101/71 (HapMap)
    T=0.052632/16 (FINRISK)
    T=0.055357/248 (Estonian)
    T=0.063916/16918 (TOPMED)
    T=0.064202/9001 (GnomAD)
    T=0.064843/16225 (GnomAD_exomes)
    T=0.065656/853 (GoESP)
    T=0.066228/7926 (ExAC)
    T=0.08147/51 (Chileans)
    T=0.083333/18 (Qatari)
    T=0.086667/52 (NorthernSweden)
    T=0.09018/90 (GoNL)
    T=0.096818/359 (TWINSUK)
    T=0.097561/376 (ALSPAC)
    T=0.125/5 (GENOME_DK)
    T=0.127341/68 (MGP)
    C=0.5/11 (SGDP_PRJ)
    HGVS:

    2.

    rs709948 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      14:56803966 (GRCh38)
      14:57270684 (GRCh37)
      Canonical SPDI:
      NC_000014.9:56803965:C:G
      Gene:
      OTX2 (Varview)
      Functional Consequence:
      intron_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.001404/26 (ALFA)
      C=0./0 (ALSPAC)
      C=0./0 (GENOME_DK)
      C=0./0 (KOREAN)
      C=0./0 (Korea1K)
      C=0./0 (NorthernSweden)
      C=0./0 (Qatari)
      C=0./0 (Siberian)
      C=0./0 (TOMMO)
      C=0./0 (TWINSUK)
      C=0./0 (Vietnamese)
      C=0.002352/330 (GnomAD)
      C=0.002497/661 (TOPMED)
      C=0.00406/20 (1000Genomes)
      C=0.005376/3 (SGDP_PRJ)
      HGVS:

      3.

      rs2277499 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        14:56804409 (GRCh38)
        14:57271127 (GRCh37)
        Canonical SPDI:
        NC_000014.9:56804408:G:T
        Gene:
        OTX2 (Varview)
        Functional Consequence:
        intron_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.332975/9304 (ALFA)
        T=0.146067/78 (MGP)
        T=0.169757/2845 (TOMMO)
        T=0.185578/543 (KOREAN)
        T=0.287037/93 (HapMap)
        T=0.292453/62 (Vietnamese)
        T=0.298549/3868 (GoESP)
        T=0.304185/1523 (1000Genomes)
        T=0.305556/66 (Qatari)
        T=0.31018/43375 (GnomAD)
        T=0.314851/83338 (TOPMED)
        T=0.330306/1273 (ALSPAC)
        T=0.330357/1480 (Estonian)
        T=0.33603/1246 (TWINSUK)
        T=0.343333/206 (NorthernSweden)
        T=0.347088/74531 (GnomAD_exomes)
        T=0.349524/34995 (ExAC)
        T=0.357715/357 (GoNL)
        G=0.375/120 (SGDP_PRJ)
        T=0.375/15 (GENOME_DK)
        G=0.421053/16 (Siberian)
        HGVS:

        PubMedLitVar

        4.

        rs3215889 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          14:56801395 (GRCh38)
          14:57268113 (GRCh37)
          Canonical SPDI:
          NC_000014.9:56801394:G:
          Gene:
          OTX2 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,non_coding_transcript_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.012921/233 (ALFA)
          -=0.013026/13 (GoNL)
          -=0.015912/59 (TWINSUK)
          -=0.017644/68 (ALSPAC)
          -=0.025013/3508 (GnomAD)
          -=0.02597/6874 (TOPMED)
          -=0.026667/16 (NorthernSweden)
          -=0.043973/197 (Estonian)
          -=0.047314/237 (1000Genomes)
          -=0.083333/18 (Vietnamese)
          -=0.135926/2278 (TOMMO)
          -=0.153384/281 (Korea1K)
          HGVS:

          5.

          rs28757218 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            14:56805348 (GRCh38)
            14:57272066 (GRCh37)
            Canonical SPDI:
            NC_000014.9:56805347:G:A,NC_000014.9:56805347:G:C
            Gene:
            OTX2 (Varview)
            Functional Consequence:
            intron_variant
            Clinical significance:
            benign,likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.006384/177 (ALFA)
            A=0.003401/1 (FINRISK)
            A=0.00406/20 (1000Genomes)
            A=0.00463/1 (Qatari)
            A=0.004911/22 (Estonian)
            A=0.009913/2624 (TOPMED)
            A=0.010205/2554 (GnomAD_exomes)
            A=0.010208/1188 (ExAC)
            A=0.010918/142 (GoESP)
            A=0.013215/49 (TWINSUK)
            A=0.014981/8 (MGP)
            A=0.015049/58 (ALSPAC)
            A=0.016667/10 (NorthernSweden)
            A=0.017034/17 (GoNL)
            A=0.025/1 (GENOME_DK)
            G=0.5/3 (SGDP_PRJ)
            HGVS:

            PubMedLitVar

            6.

            rs34537598 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:56802170 (GRCh38)
              14:57268888 (GRCh37)
              Canonical SPDI:
              NC_000014.9:56802169:G:A
              Gene:
              OTX2 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
              Clinical significance:
              benign,likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.002709/152 (ALFA)
              A=0./0 (ALSPAC)
              A=0.00027/1 (TWINSUK)
              A=0.001873/1 (MGP)
              A=0.00222/558 (GnomAD_exomes)
              A=0.002793/339 (ExAC)
              A=0.009259/2 (Qatari)
              A=0.009606/1347 (GnomAD)
              A=0.009842/128 (GoESP)
              A=0.010087/2670 (TOPMED)
              A=0.013117/66 (1000Genomes)
              G=0.5/2 (SGDP_PRJ)
              HGVS:

              7.

              rs57390094 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                14:56800769 (GRCh38)
                14:57267487 (GRCh37)
                Canonical SPDI:
                NC_000014.9:56800768:T:C
                Gene:
                OTX2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant
                Clinical significance:
                benign,likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000064/9 (GnomAD)
                C=0.000166/44 (TOPMED)
                C=0.000625/3 (1000Genomes)
                C=0.001062/18 (TOMMO)
                C=0.002729/5 (Korea1K)
                C=0.002738/8 (KOREAN)
                C=0.00463/1 (Vietnamese)
                HGVS:

                8.

                rs78559885 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  14:56801798 (GRCh38)
                  14:57268516 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:56801797:G:A
                  Gene:
                  OTX2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Clinical significance:
                  likely-benign,benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000447/20 (ALFA)
                  A=0./0 (ALSPAC)
                  A=0.00027/1 (TWINSUK)
                  A=0.000422/106 (GnomAD_exomes)
                  A=0.000486/59 (ExAC)
                  A=0.001405/7 (1000Genomes)
                  A=0.001711/240 (GnomAD)
                  A=0.001768/23 (GoESP)
                  A=0.001844/488 (TOPMED)
                  HGVS:

                  9.

                  rs104894464 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    14:56802340 (GRCh38)
                    14:57269058 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:56802339:G:A,NC_000014.9:56802339:G:C
                    Gene:
                    OTX2 (Varview)
                    Functional Consequence:
                    stop_gained,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Clinical significance:
                    pathogenic
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0./0 (PAGE_STUDY)
                    HGVS:
                    NC_000014.9:g.56802340G>A, NC_000014.9:g.56802340G>C, NC_000014.8:g.57269058G>A, NC_000014.8:g.57269058G>C, NG_008204.2:g.19354C>T, NG_008204.2:g.19354C>G, NM_021728.4:c.289C>T, NM_021728.4:c.289C>G, NM_021728.3:c.289C>T, NM_021728.3:c.289C>G, NM_172337.3:c.265C>T, NM_172337.3:c.265C>G, NM_172337.2:c.265C>T, NM_172337.2:c.265C>G, NM_001270524.2:c.265C>T, NM_001270524.2:c.265C>G, NM_001270524.1:c.265C>T, NM_001270524.1:c.265C>G, NM_001270523.2:c.265C>T, NM_001270523.2:c.265C>G, NM_001270523.1:c.265C>T, NM_001270523.1:c.265C>G, NM_001270525.2:c.289C>T, NM_001270525.2:c.289C>G, NM_001270525.1:c.289C>T, NM_001270525.1:c.289C>G, NR_073034.2:n.400C>T, NR_073034.2:n.400C>G, NR_073034.1:n.397C>T, NR_073034.1:n.397C>G, NR_073036.2:n.324C>T, NR_073036.2:n.324C>G, NR_073036.1:n.320C>T, NR_073036.1:n.320C>G, NP_068374.1:p.Arg97Ter, NP_068374.1:p.Arg97Gly, NP_758840.1:p.Arg89Ter, NP_758840.1:p.Arg89Gly, NP_001257453.1:p.Arg89Ter, NP_001257453.1:p.Arg89Gly, NP_001257452.1:p.Arg89Ter, NP_001257452.1:p.Arg89Gly, NP_001257454.1:p.Arg97Ter, NP_001257454.1:p.Arg97Gly

                    LitVar

                    10.

                    rs104894465 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      14:56802068 (GRCh38)
                      14:57268786 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:56802067:A:G,NC_000014.9:56802067:A:T
                      Gene:
                      OTX2 (Varview)
                      Functional Consequence:
                      stop_gained,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Clinical significance:
                      pathogenic
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      T=0./0 (PAGE_STUDY)
                      G=0.000004/1 (TOPMED)
                      G=0.000008/1 (ExAC)
                      G=0.00002/5 (GnomAD_exomes)
                      G=0.000156/1 (1000Genomes)
                      HGVS:
                      NC_000014.9:g.56802068A>G, NC_000014.9:g.56802068A>T, NC_000014.8:g.57268786A>G, NC_000014.8:g.57268786A>T, NG_008204.2:g.19626T>C, NG_008204.2:g.19626T>A, NM_021728.4:c.561T>C, NM_021728.4:c.561T>A, NM_021728.3:c.561T>C, NM_021728.3:c.561T>A, NM_172337.3:c.537T>C, NM_172337.3:c.537T>A, NM_172337.2:c.537T>C, NM_172337.2:c.537T>A, NM_001270524.2:c.537T>C, NM_001270524.2:c.537T>A, NM_001270524.1:c.537T>C, NM_001270524.1:c.537T>A, NM_001270523.2:c.537T>C, NM_001270523.2:c.537T>A, NM_001270523.1:c.537T>C, NM_001270523.1:c.537T>A, NM_001270525.2:c.561T>C, NM_001270525.2:c.561T>A, NM_001270525.1:c.561T>C, NM_001270525.1:c.561T>A, NR_073034.2:n.672T>C, NR_073034.2:n.672T>A, NR_073034.1:n.669T>C, NR_073034.1:n.669T>A, NR_073036.2:n.596T>C, NR_073036.2:n.596T>A, NR_073036.1:n.592T>C, NR_073036.1:n.592T>A, NP_068374.1:p.Tyr187Ter, NP_758840.1:p.Tyr179Ter, NP_001257453.1:p.Tyr179Ter, NP_001257452.1:p.Tyr179Ter, NP_001257454.1:p.Tyr187Ter

                      LitVar

                      11.

                      rs138197536 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        14:56800956 (GRCh38)
                        14:57267674 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:56800955:C:G,NC_000014.9:56800955:C:T
                        Gene:
                        OTX2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant
                        Clinical significance:
                        likely-benign,benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000406/57 (GnomAD)
                        T=0.000661/175 (TOPMED)
                        T=0.003592/18 (1000Genomes)
                        T=0.007821/131 (TOMMO)
                        T=0.014192/26 (Korea1K)
                        T=0.016769/49 (KOREAN)
                        HGVS:
                        NC_000014.9:g.56800956C>G, NC_000014.9:g.56800956C>T, NC_000014.8:g.57267674C>G, NC_000014.8:g.57267674C>T, NG_008204.2:g.20738G>C, NG_008204.2:g.20738G>A, NM_021728.4:c.*779G>C, NM_021728.4:c.*779G>A, NM_021728.3:c.*779G>C, NM_021728.3:c.*779G>A, NM_172337.3:c.*779G>C, NM_172337.3:c.*779G>A, NM_172337.2:c.*779G>C, NM_172337.2:c.*779G>A, NM_001270524.2:c.*779G>C, NM_001270524.2:c.*779G>A, NM_001270524.1:c.*779G>C, NM_001270524.1:c.*779G>A, NM_001270523.2:c.*779G>C, NM_001270523.2:c.*779G>A, NM_001270523.1:c.*779G>C, NM_001270523.1:c.*779G>A, NM_001270525.2:c.*779G>C, NM_001270525.2:c.*779G>A, NM_001270525.1:c.*779G>C, NM_001270525.1:c.*779G>A, NR_073034.2:n.1784G>C, NR_073034.2:n.1784G>A, NR_073034.1:n.1781G>C, NR_073034.1:n.1781G>A, NR_073036.2:n.1708G>C, NR_073036.2:n.1708G>A, NR_073036.1:n.1704G>C, NR_073036.1:n.1704G>A

                        12.

                        rs139800030 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:56801872 (GRCh38)
                          14:57268590 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:56801871:C:T
                          Gene:
                          OTX2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000164/8 (ALFA)
                          T=0.000035/1 (TOMMO)
                          T=0.000057/15 (TOPMED)
                          T=0.000084/21 (GnomAD_exomes)
                          T=0.000107/13 (ExAC)
                          T=0.000107/15 (GnomAD)
                          T=0.000154/2 (GoESP)
                          T=0.000223/1 (Estonian)
                          HGVS:

                          13.

                          rs141664597 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:56804269 (GRCh38)
                            14:57270987 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:56804268:C:T
                            Gene:
                            OTX2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,synonymous_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000077/1 (GoESP)
                            HGVS:

                            14.

                            rs142727455 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:56801419 (GRCh38)
                              14:57268137 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:56801418:C:T
                              Gene:
                              OTX2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,3_prime_UTR_variant
                              Clinical significance:
                              likely-benign,uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.00015/21 (GnomAD)
                              T=0.000276/73 (TOPMED)
                              T=0.001718/9 (1000Genomes)
                              T=0.002017/34 (TOMMO)
                              T=0.00308/9 (KOREAN)
                              T=0.004367/8 (Korea1K)
                              T=0.004762/1 (Vietnamese)
                              HGVS:

                              15.

                              rs142743327 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:56801966 (GRCh38)
                                14:57268684 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:56801965:G:A
                                Gene:
                                OTX2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                Clinical significance:
                                likely-benign,benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000386/19 (ALFA)
                                A=0.000259/1 (ALSPAC)
                                A=0.000302/76 (GnomAD_exomes)
                                A=0.000308/4 (GoESP)
                                A=0.000342/1 (KOREAN)
                                A=0.000371/45 (ExAC)
                                A=0.000809/3 (TWINSUK)
                                A=0.000891/125 (GnomAD)
                                A=0.000963/255 (TOPMED)
                                A=0.001002/1 (GoNL)
                                A=0.001116/5 (Estonian)
                                HGVS:

                                16.

                                rs144449264 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  14:56801916 (GRCh38)
                                  14:57268634 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:56801915:T:A,NC_000014.9:56801915:T:C
                                  Gene:
                                  OTX2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000028/1 (ALFA)
                                  A=0.000023/6 (TOPMED)
                                  A=0.000029/4 (GnomAD)
                                  A=0.000077/1 (GoESP)
                                  HGVS:
                                  NC_000014.9:g.56801916T>A, NC_000014.9:g.56801916T>C, NC_000014.8:g.57268634T>A, NC_000014.8:g.57268634T>C, NG_008204.2:g.19778A>T, NG_008204.2:g.19778A>G, NM_021728.4:c.713A>T, NM_021728.4:c.713A>G, NM_021728.3:c.713A>T, NM_021728.3:c.713A>G, NM_172337.3:c.689A>T, NM_172337.3:c.689A>G, NM_172337.2:c.689A>T, NM_172337.2:c.689A>G, NM_001270524.2:c.689A>T, NM_001270524.2:c.689A>G, NM_001270524.1:c.689A>T, NM_001270524.1:c.689A>G, NM_001270523.2:c.689A>T, NM_001270523.2:c.689A>G, NM_001270523.1:c.689A>T, NM_001270523.1:c.689A>G, NM_001270525.2:c.713A>T, NM_001270525.2:c.713A>G, NM_001270525.1:c.713A>T, NM_001270525.1:c.713A>G, NR_073034.2:n.824A>T, NR_073034.2:n.824A>G, NR_073034.1:n.821A>T, NR_073034.1:n.821A>G, NR_073036.2:n.748A>T, NR_073036.2:n.748A>G, NR_073036.1:n.744A>T, NR_073036.1:n.744A>G, NP_068374.1:p.His238Leu, NP_068374.1:p.His238Arg, NP_758840.1:p.His230Leu, NP_758840.1:p.His230Arg, NP_001257453.1:p.His230Leu, NP_001257453.1:p.His230Arg, NP_001257452.1:p.His230Leu, NP_001257452.1:p.His230Arg, NP_001257454.1:p.His238Leu, NP_001257454.1:p.His238Arg

                                  17.

                                  rs147896150 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    14:56802185 (GRCh38)
                                    14:57268903 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:56802184:C:G,NC_000014.9:56802184:C:T
                                    Gene:
                                    OTX2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                    Clinical significance:
                                    likely-benign,uncertain-significance,benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.00007/3 (ALFA)
                                    G=0.00123/16 (GoESP)
                                    G=0.00141/7 (1000Genomes)
                                    HGVS:
                                    NC_000014.9:g.56802185C>G, NC_000014.9:g.56802185C>T, NC_000014.8:g.57268903C>G, NC_000014.8:g.57268903C>T, NG_008204.2:g.19509G>C, NG_008204.2:g.19509G>A, NM_021728.4:c.444G>C, NM_021728.4:c.444G>A, NM_021728.3:c.444G>C, NM_021728.3:c.444G>A, NM_172337.3:c.420G>C, NM_172337.3:c.420G>A, NM_172337.2:c.420G>C, NM_172337.2:c.420G>A, NM_001270524.2:c.420G>C, NM_001270524.2:c.420G>A, NM_001270524.1:c.420G>C, NM_001270524.1:c.420G>A, NM_001270523.2:c.420G>C, NM_001270523.2:c.420G>A, NM_001270523.1:c.420G>C, NM_001270523.1:c.420G>A, NM_001270525.2:c.444G>C, NM_001270525.2:c.444G>A, NM_001270525.1:c.444G>C, NM_001270525.1:c.444G>A, NR_073034.2:n.555G>C, NR_073034.2:n.555G>A, NR_073034.1:n.552G>C, NR_073034.1:n.552G>A, NR_073036.2:n.479G>C, NR_073036.2:n.479G>A, NR_073036.1:n.475G>C, NR_073036.1:n.475G>A

                                    18.

                                    rs150982073 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      14:56801988 (GRCh38)
                                      14:57268706 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:56801987:G:C,NC_000014.9:56801987:G:T
                                      Gene:
                                      OTX2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Clinical significance:
                                      likely-benign,uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.00036/69 (ALFA)
                                      T=0.000076/6 (PAGE_STUDY)
                                      T=0.000154/2 (GoESP)
                                      T=0.000166/44 (TOPMED)
                                      T=0.000255/64 (GnomAD_exomes)
                                      T=0.00027/1 (TWINSUK)
                                      T=0.000305/37 (ExAC)
                                      T=0.000519/2 (ALSPAC)
                                      T=0.001667/1 (NorthernSweden)
                                      HGVS:
                                      NC_000014.9:g.56801988G>C, NC_000014.9:g.56801988G>T, NC_000014.8:g.57268706G>C, NC_000014.8:g.57268706G>T, NG_008204.2:g.19706C>G, NG_008204.2:g.19706C>A, NM_021728.4:c.641C>G, NM_021728.4:c.641C>A, NM_021728.3:c.641C>G, NM_021728.3:c.641C>A, NM_172337.3:c.617C>G, NM_172337.3:c.617C>A, NM_172337.2:c.617C>G, NM_172337.2:c.617C>A, NM_001270524.2:c.617C>G, NM_001270524.2:c.617C>A, NM_001270524.1:c.617C>G, NM_001270524.1:c.617C>A, NM_001270523.2:c.617C>G, NM_001270523.2:c.617C>A, NM_001270523.1:c.617C>G, NM_001270523.1:c.617C>A, NM_001270525.2:c.641C>G, NM_001270525.2:c.641C>A, NM_001270525.1:c.641C>G, NM_001270525.1:c.641C>A, NR_073034.2:n.752C>G, NR_073034.2:n.752C>A, NR_073034.1:n.749C>G, NR_073034.1:n.749C>A, NR_073036.2:n.676C>G, NR_073036.2:n.676C>A, NR_073036.1:n.672C>G, NR_073036.1:n.672C>A, NP_068374.1:p.Thr214Ser, NP_068374.1:p.Thr214Asn, NP_758840.1:p.Thr206Ser, NP_758840.1:p.Thr206Asn, NP_001257453.1:p.Thr206Ser, NP_001257453.1:p.Thr206Asn, NP_001257452.1:p.Thr206Ser, NP_001257452.1:p.Thr206Asn, NP_001257454.1:p.Thr214Ser, NP_001257454.1:p.Thr214Asn

                                      19.

                                      rs184421963 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        14:56801068 (GRCh38)
                                        14:57267786 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:56801067:T:G
                                        Gene:
                                        OTX2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,3_prime_UTR_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000208/3 (ALFA)
                                        G=0.000219/58 (TOPMED)
                                        G=0.000235/33 (GnomAD)
                                        G=0.000312/2 (1000Genomes)
                                        G=0.001297/5 (ALSPAC)
                                        G=0.001348/5 (TWINSUK)
                                        HGVS:

                                        20.

                                        rs199650198 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:56801886 (GRCh38)
                                          14:57268604 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:56801885:G:A
                                          Gene:
                                          OTX2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000173/32 (ALFA)
                                          A=0./0 (PAGE_STUDY)
                                          A=0.000049/6 (ExAC)
                                          A=0.00006/15 (GnomAD_exomes)
                                          A=0.000077/1 (GoESP)
                                          A=0.000079/21 (TOPMED)
                                          A=0.000086/12 (GnomAD)
                                          A=0.001002/1 (GoNL)
                                          HGVS:

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