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Items: 1 to 20 of 146

1.

rs1481266722 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:27102187 (GRCh38)
    2:27325055 (GRCh37)
    Canonical SPDI:
    NC_000002.12:27102186:G:A
    Gene:
    CGREF1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    HGVS:

    2.

    rs1479994455 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      2:27099797 (GRCh38)
      2:27322665 (GRCh37)
      Canonical SPDI:
      NC_000002.12:27099796:T:
      Gene:
      KHK (Varview), CGREF1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.00057/9 (TOMMO)
      HGVS:
      NC_000002.12:g.27099797del, NC_000002.11:g.27322665del, NG_012199.2:g.18055del, NM_006488.3:c.*47del, NM_006488.2:c.*47del, NM_000221.3:c.*47del, NM_000221.2:c.*47del, XM_005264294.5:c.*47del, XM_005264294.4:c.*47del, XM_005264294.3:c.*47del, XM_005264294.2:c.*47del, XM_005264294.1:c.*47del, XM_005264296.5:c.*47del, XM_005264296.4:c.*47del, XM_005264296.3:c.*47del, XM_005264296.2:c.*47del, XM_005264296.1:c.*47del, XM_005264298.5:c.*47del, XM_005264298.4:c.*47del, XM_005264298.3:c.*47del, XM_005264298.2:c.*47del, XM_005264298.1:c.*47del, XM_017004060.3:c.*47del, XM_017004060.2:c.*47del, XM_017004060.1:c.*47del, XM_017004061.3:c.*47del, XM_017004061.2:c.*47del, XM_017004061.1:c.*47del, NM_001301324.2:c.*64del, NM_001301324.1:c.*64del, NM_001166240.2:c.386del, NM_001166240.1:c.386del, NM_001166241.1:c.326del, NP_001159712.1:p.Gln129fs

      3.

      rs1478520975 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:27102366 (GRCh38)
        2:27325234 (GRCh37)
        Canonical SPDI:
        NC_000002.12:27102365:C:T
        Gene:
        CGREF1 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1472413052 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:27102202 (GRCh38)
          2:27325070 (GRCh37)
          Canonical SPDI:
          NC_000002.12:27102201:G:A
          Gene:
          CGREF1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000028/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1454084154 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            2:27102392 (GRCh38)
            2:27325260 (GRCh37)
            Canonical SPDI:
            NC_000002.12:27102391:T:A
            Gene:
            CGREF1 (Varview), LOC124907744 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000142/2 (TOMMO)
            HGVS:

            6.

            rs1444212711 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:27099797 (GRCh38)
              2:27322665 (GRCh37)
              Canonical SPDI:
              NC_000002.12:27099796:T:C
              Gene:
              KHK (Varview), CGREF1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000002.12:g.27099797T>C, NC_000002.11:g.27322665T>C, NG_012199.2:g.18055T>C, NM_006488.3:c.*47T>C, NM_006488.2:c.*47T>C, NM_000221.3:c.*47T>C, NM_000221.2:c.*47T>C, XM_005264294.5:c.*47T>C, XM_005264294.4:c.*47T>C, XM_005264294.3:c.*47T>C, XM_005264294.2:c.*47T>C, XM_005264294.1:c.*47T>C, XM_005264296.5:c.*47T>C, XM_005264296.4:c.*47T>C, XM_005264296.3:c.*47T>C, XM_005264296.2:c.*47T>C, XM_005264296.1:c.*47T>C, XM_005264298.5:c.*47T>C, XM_005264298.4:c.*47T>C, XM_005264298.3:c.*47T>C, XM_005264298.2:c.*47T>C, XM_005264298.1:c.*47T>C, XM_017004060.3:c.*47T>C, XM_017004060.2:c.*47T>C, XM_017004060.1:c.*47T>C, XM_017004061.3:c.*47T>C, XM_017004061.2:c.*47T>C, XM_017004061.1:c.*47T>C, NM_001301324.2:c.*64A>G, NM_001301324.1:c.*64A>G, NM_001166240.2:c.386A>G, NM_001166240.1:c.386A>G, NM_001166241.1:c.326A>G, NP_001159712.1:p.Gln129Arg

              7.

              rs1441978165 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:27104362 (GRCh38)
                2:27327230 (GRCh37)
                Canonical SPDI:
                NC_000002.12:27104361:A:G
                Gene:
                CGREF1 (Varview), LOC124907744 (Varview)
                Functional Consequence:
                missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1439894755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:27099811 (GRCh38)
                  2:27322679 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:27099810:C:T
                  Gene:
                  KHK (Varview), CGREF1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.27099811C>T, NC_000002.11:g.27322679C>T, NG_012199.2:g.18069C>T, NM_006488.3:c.*61C>T, NM_006488.2:c.*61C>T, NM_000221.3:c.*61C>T, NM_000221.2:c.*61C>T, XM_005264294.5:c.*61C>T, XM_005264294.4:c.*61C>T, XM_005264294.3:c.*61C>T, XM_005264294.2:c.*61C>T, XM_005264294.1:c.*61C>T, XM_005264296.5:c.*61C>T, XM_005264296.4:c.*61C>T, XM_005264296.3:c.*61C>T, XM_005264296.2:c.*61C>T, XM_005264296.1:c.*61C>T, XM_005264298.5:c.*61C>T, XM_005264298.4:c.*61C>T, XM_005264298.3:c.*61C>T, XM_005264298.2:c.*61C>T, XM_005264298.1:c.*61C>T, XM_017004060.3:c.*61C>T, XM_017004060.2:c.*61C>T, XM_017004060.1:c.*61C>T, XM_017004061.3:c.*61C>T, XM_017004061.2:c.*61C>T, XM_017004061.1:c.*61C>T, NM_001301324.2:c.*50G>A, NM_001301324.1:c.*50G>A, NM_001166240.2:c.372G>A, NM_001166240.1:c.372G>A, NM_001166241.1:c.312G>A

                  9.

                  rs1435263146 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:27104354 (GRCh38)
                    2:27327222 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:27104353:T:A
                    Gene:
                    CGREF1 (Varview), LOC124907744 (Varview)
                    Functional Consequence:
                    missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1426968318 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:27099816 (GRCh38)
                      2:27322684 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:27099815:C:T
                      Gene:
                      KHK (Varview), CGREF1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000016/3 (GnomAD_exomes)
                      T=0.000071/2 (TOMMO)
                      HGVS:
                      NC_000002.12:g.27099816C>T, NC_000002.11:g.27322684C>T, NG_012199.2:g.18074C>T, NM_006488.3:c.*66C>T, NM_006488.2:c.*66C>T, NM_000221.3:c.*66C>T, NM_000221.2:c.*66C>T, XM_005264294.5:c.*66C>T, XM_005264294.4:c.*66C>T, XM_005264294.3:c.*66C>T, XM_005264294.2:c.*66C>T, XM_005264294.1:c.*66C>T, XM_005264296.5:c.*66C>T, XM_005264296.4:c.*66C>T, XM_005264296.3:c.*66C>T, XM_005264296.2:c.*66C>T, XM_005264296.1:c.*66C>T, XM_005264298.5:c.*66C>T, XM_005264298.4:c.*66C>T, XM_005264298.3:c.*66C>T, XM_005264298.2:c.*66C>T, XM_005264298.1:c.*66C>T, XM_017004060.3:c.*66C>T, XM_017004060.2:c.*66C>T, XM_017004060.1:c.*66C>T, XM_017004061.3:c.*66C>T, XM_017004061.2:c.*66C>T, XM_017004061.1:c.*66C>T, NM_001301324.2:c.*45G>A, NM_001301324.1:c.*45G>A, NM_001166240.2:c.367G>A, NM_001166240.1:c.367G>A, NM_001166241.1:c.307G>A, NP_001159712.1:p.Gly123Arg

                      11.

                      rs1422749977 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        2:27104337 (GRCh38)
                        2:27327205 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:27104336:G:C,NC_000002.12:27104336:G:T
                        Gene:
                        CGREF1 (Varview), LOC124907744 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1419578820 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:27102381 (GRCh38)
                          2:27325249 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:27102380:C:T
                          Gene:
                          CGREF1 (Varview), LOC124907744 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1404762423 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GGCCAGAGCAGCTGTCAACATGGACAGCAGCTCCAGG [Show Flanks]
                            Chromosome:
                            2:27102118 (GRCh38)
                            2:27324987 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:27102118:GCAGCTCCAGGGGCCAGAGCAGCTGTCAACATGGACAGCAGCTCCAGG:GCAGCTCCAGGGGCCAGAGCAGCTGTCAACATGGACAGCAGCTCCAGGGGCCAGAGCAGCTGTCAACATGGACAGCAGCTCCAGG
                            Gene:
                            CGREF1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            GCAGCTCCAGGGGCCAGAGCAGCTGTCAACATGGACA=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1397881088 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C,G [Show Flanks]
                              Chromosome:
                              2:27099836 (GRCh38)
                              2:27322704 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:27099835:T:A,NC_000002.12:27099835:T:C,NC_000002.12:27099835:T:G
                              Gene:
                              KHK (Varview), CGREF1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.27099836T>A, NC_000002.12:g.27099836T>C, NC_000002.12:g.27099836T>G, NC_000002.11:g.27322704T>A, NC_000002.11:g.27322704T>C, NC_000002.11:g.27322704T>G, NG_012199.2:g.18094T>A, NG_012199.2:g.18094T>C, NG_012199.2:g.18094T>G, NM_006488.3:c.*86T>A, NM_006488.3:c.*86T>C, NM_006488.3:c.*86T>G, NM_006488.2:c.*86T>A, NM_006488.2:c.*86T>C, NM_006488.2:c.*86T>G, NM_000221.3:c.*86T>A, NM_000221.3:c.*86T>C, NM_000221.3:c.*86T>G, NM_000221.2:c.*86T>A, NM_000221.2:c.*86T>C, NM_000221.2:c.*86T>G, XM_005264294.5:c.*86T>A, XM_005264294.5:c.*86T>C, XM_005264294.5:c.*86T>G, XM_005264294.4:c.*86T>A, XM_005264294.4:c.*86T>C, XM_005264294.4:c.*86T>G, XM_005264294.3:c.*86T>A, XM_005264294.3:c.*86T>C, XM_005264294.3:c.*86T>G, XM_005264294.2:c.*86T>A, XM_005264294.2:c.*86T>C, XM_005264294.2:c.*86T>G, XM_005264294.1:c.*86T>A, XM_005264294.1:c.*86T>C, XM_005264294.1:c.*86T>G, XM_005264296.5:c.*86T>A, XM_005264296.5:c.*86T>C, XM_005264296.5:c.*86T>G, XM_005264296.4:c.*86T>A, XM_005264296.4:c.*86T>C, XM_005264296.4:c.*86T>G, XM_005264296.3:c.*86T>A, XM_005264296.3:c.*86T>C, XM_005264296.3:c.*86T>G, XM_005264296.2:c.*86T>A, XM_005264296.2:c.*86T>C, XM_005264296.2:c.*86T>G, XM_005264296.1:c.*86T>A, XM_005264296.1:c.*86T>C, XM_005264296.1:c.*86T>G, XM_005264298.5:c.*86T>A, XM_005264298.5:c.*86T>C, XM_005264298.5:c.*86T>G, XM_005264298.4:c.*86T>A, XM_005264298.4:c.*86T>C, XM_005264298.4:c.*86T>G, XM_005264298.3:c.*86T>A, XM_005264298.3:c.*86T>C, XM_005264298.3:c.*86T>G, XM_005264298.2:c.*86T>A, XM_005264298.2:c.*86T>C, XM_005264298.2:c.*86T>G, XM_005264298.1:c.*86T>A, XM_005264298.1:c.*86T>C, XM_005264298.1:c.*86T>G, XM_017004060.3:c.*86T>A, XM_017004060.3:c.*86T>C, XM_017004060.3:c.*86T>G, XM_017004060.2:c.*86T>A, XM_017004060.2:c.*86T>C, XM_017004060.2:c.*86T>G, XM_017004060.1:c.*86T>A, XM_017004060.1:c.*86T>C, XM_017004060.1:c.*86T>G, XM_017004061.3:c.*86T>A, XM_017004061.3:c.*86T>C, XM_017004061.3:c.*86T>G, XM_017004061.2:c.*86T>A, XM_017004061.2:c.*86T>C, XM_017004061.2:c.*86T>G, XM_017004061.1:c.*86T>A, XM_017004061.1:c.*86T>C, XM_017004061.1:c.*86T>G, NM_001301324.2:c.*25A>T, NM_001301324.2:c.*25A>G, NM_001301324.2:c.*25A>C, NM_001301324.1:c.*25A>T, NM_001301324.1:c.*25A>G, NM_001301324.1:c.*25A>C, NM_001166240.2:c.347A>T, NM_001166240.2:c.347A>G, NM_001166240.2:c.347A>C, NM_001166240.1:c.347A>T, NM_001166240.1:c.347A>G, NM_001166240.1:c.347A>C, NM_001166241.1:c.287A>T, NM_001166241.1:c.287A>G, NM_001166241.1:c.287A>C, NP_001159712.1:p.Asn116Ile, NP_001159712.1:p.Asn116Ser, NP_001159712.1:p.Asn116Thr

                              15.

                              rs1397577308 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:27104298 (GRCh38)
                                2:27327166 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:27104297:A:G
                                Gene:
                                CGREF1 (Varview), LOC124907744 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,initiator_codon_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000005/1 (GnomAD_exomes)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1386336284 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:27102379 (GRCh38)
                                  2:27325247 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:27102378:C:T
                                  Gene:
                                  CGREF1 (Varview), LOC124907744 (Varview)
                                  Functional Consequence:
                                  intron_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1383726666 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:27099815 (GRCh38)
                                    2:27322683 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:27099814:C:T
                                    Gene:
                                    KHK (Varview), CGREF1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000005/1 (GnomAD_exomes)
                                    T=0.000023/6 (TOPMED)
                                    T=0.000036/5 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.27099815C>T, NC_000002.11:g.27322683C>T, NG_012199.2:g.18073C>T, NM_006488.3:c.*65C>T, NM_006488.2:c.*65C>T, NM_000221.3:c.*65C>T, NM_000221.2:c.*65C>T, XM_005264294.5:c.*65C>T, XM_005264294.4:c.*65C>T, XM_005264294.3:c.*65C>T, XM_005264294.2:c.*65C>T, XM_005264294.1:c.*65C>T, XM_005264296.5:c.*65C>T, XM_005264296.4:c.*65C>T, XM_005264296.3:c.*65C>T, XM_005264296.2:c.*65C>T, XM_005264296.1:c.*65C>T, XM_005264298.5:c.*65C>T, XM_005264298.4:c.*65C>T, XM_005264298.3:c.*65C>T, XM_005264298.2:c.*65C>T, XM_005264298.1:c.*65C>T, XM_017004060.3:c.*65C>T, XM_017004060.2:c.*65C>T, XM_017004060.1:c.*65C>T, XM_017004061.3:c.*65C>T, XM_017004061.2:c.*65C>T, XM_017004061.1:c.*65C>T, NM_001301324.2:c.*46G>A, NM_001301324.1:c.*46G>A, NM_001166240.2:c.368G>A, NM_001166240.1:c.368G>A, NM_001166241.1:c.308G>A, NP_001159712.1:p.Gly123Glu

                                    18.

                                    rs1379611832 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CT>- [Show Flanks]
                                      Chromosome:
                                      2:27104345 (GRCh38)
                                      2:27327213 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:27104344:CT:
                                      Gene:
                                      CGREF1 (Varview), LOC124907744 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000004/1 (GnomAD_exomes)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1377533282 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        2:27102175 (GRCh38)
                                        2:27325043 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:27102174:C:G
                                        Gene:
                                        CGREF1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1376496013 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          2:27102374 (GRCh38)
                                          2:27325242 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:27102373:A:C
                                          Gene:
                                          CGREF1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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