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Links from Nucleotide

Items: 1 to 20 of 283

1.

rs1488664788 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:72195411 (GRCh38)
    11:71906455 (GRCh37)
    Canonical SPDI:
    NC_000011.10:72195410:C:T
    Gene:
    FOLR1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1488460520 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:72192321 (GRCh38)
      11:71903365 (GRCh37)
      Canonical SPDI:
      NC_000011.10:72192320:G:A
      Gene:
      FOLR1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000028/1 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      4.

      rs1483811425 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        11:72196132 (GRCh38)
        11:71907176 (GRCh37)
        Canonical SPDI:
        NC_000011.10:72196131:T:C
        Gene:
        FOLR1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        5.

        rs1481377477 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          11:72196137 (GRCh38)
          11:71907181 (GRCh37)
          Canonical SPDI:
          NC_000011.10:72196136:T:G
          Gene:
          FOLR1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          7.

          rs1477467941 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            11:72192288 (GRCh38)
            11:71903332 (GRCh37)
            Canonical SPDI:
            NC_000011.10:72192287:A:T
            Gene:
            FOLR1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            8.

            rs1475933334 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:72195938 (GRCh38)
              11:71906982 (GRCh37)
              Canonical SPDI:
              NC_000011.10:72195937:C:T
              Gene:
              FOLR1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000066/1 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000223/1 (Estonian)
              HGVS:
              9.

              rs1472589648 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:72196051 (GRCh38)
                11:71907095 (GRCh37)
                Canonical SPDI:
                NC_000011.10:72196050:A:G
                Gene:
                FOLR1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000028/1 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000007/1 (GnomAD)
                HGVS:
                10.

                rs1470914938 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:72192316 (GRCh38)
                  11:71903360 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:72192315:G:A
                  Gene:
                  FOLR1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  11.

                  rs1458614338 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:72196322 (GRCh38)
                    11:71907366 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:72196321:G:A
                    Gene:
                    FOLR1 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    12.

                    rs1454406848 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:72196002 (GRCh38)
                      11:71907046 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:72196001:G:A
                      Gene:
                      FOLR1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      13.
                      14.

                      rs1443356431 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        11:72196274 (GRCh38)
                        11:71907318 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:72196273:C:A
                        Gene:
                        FOLR1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        15.

                        rs1438180550 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          11:72195714 (GRCh38)
                          11:71906758 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:72195713:A:C
                          Gene:
                          FOLR1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          16.

                          rs1438051120 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:72195717 (GRCh38)
                            11:71906761 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:72195716:A:G
                            Gene:
                            FOLR1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            17.

                            rs1437117926 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              11:72196312 (GRCh38)
                              11:71907356 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:72196311:G:T
                              Gene:
                              FOLR1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              18.

                              rs1430714825 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:72195444 (GRCh38)
                                11:71906488 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:72195443:G:A
                                Gene:
                                FOLR1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000028/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                A=0.00002/5 (GnomAD_exomes)
                                HGVS:
                                19.

                                rs1424141782 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:72196147 (GRCh38)
                                  11:71907191 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:72196146:G:T
                                  Gene:
                                  FOLR1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  20.

                                  rs1422360007 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:72195420 (GRCh38)
                                    11:71906464 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:72195419:C:T
                                    Gene:
                                    FOLR1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:

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