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Links from Gene

Items: 1 to 20 of 1736

1.

rs1490570120 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:104122810 (GRCh38)
    10:105882568 (GRCh37)
    Canonical SPDI:
    NC_000010.11:104122809:T:C
    Gene:
    SFR1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490310637 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      10:104126604 (GRCh38)
      10:105886362 (GRCh37)
      Canonical SPDI:
      NC_000010.11:104126603:C:A
      Gene:
      SFR1 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1489266723 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        10:104125069 (GRCh38)
        10:105884827 (GRCh37)
        Canonical SPDI:
        NC_000010.11:104125068:C:G
        Gene:
        SFR1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000015/4 (TOPMED)
        HGVS:
        5.

        rs1488503793 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          10:104124953 (GRCh38)
          10:105884711 (GRCh37)
          Canonical SPDI:
          NC_000010.11:104124952:C:A,NC_000010.11:104124952:C:T
          Gene:
          SFR1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          6.

          rs1487237195 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            10:104125229 (GRCh38)
            10:105884987 (GRCh37)
            Canonical SPDI:
            NC_000010.11:104125228:G:A,NC_000010.11:104125228:G:C
            Gene:
            SFR1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            HGVS:
            7.

            rs1487224752 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              10:104120141 (GRCh38)
              10:105879899 (GRCh37)
              Canonical SPDI:
              NC_000010.11:104120140:T:C
              Gene:
              SFR1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              8.

              rs1486714548 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                10:104122535 (GRCh38)
                10:105882294 (GRCh37)
                Canonical SPDI:
                NC_000010.11:104122535:T:TT
                Gene:
                SFR1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TT=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                9.

                rs1486501376 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  10:104120984 (GRCh38)
                  10:105880742 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:104120983:AAA:AA
                  Gene:
                  SFR1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AA=0.000071/1 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  10.

                  rs1486472771 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:104122627 (GRCh38)
                    10:105882385 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:104122626:C:T
                    Gene:
                    SFR1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000084/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    11.

                    rs1486088056 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:104121749 (GRCh38)
                      10:105881507 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:104121748:A:G
                      Gene:
                      SFR1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      G=0.000015/4 (TOPMED)
                      HGVS:
                      12.

                      rs1485694986 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:104126203 (GRCh38)
                        10:105885961 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:104126202:A:G
                        Gene:
                        SFR1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        13.

                        rs1485039208 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:104122234 (GRCh38)
                          10:105881992 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:104122233:G:A
                          Gene:
                          SFR1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          HGVS:
                          14.

                          rs1484451257 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            10:104120925 (GRCh38)
                            10:105880683 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:104120924:G:A,NC_000010.11:104120924:G:C
                            Gene:
                            SFR1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            16.

                            rs1484389229 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              10:104121900 (GRCh38)
                              10:105881658 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:104121899:C:G
                              Gene:
                              SFR1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              17.

                              rs1484373516 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:104123108 (GRCh38)
                                10:105882866 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:104123107:C:T
                                Gene:
                                SFR1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000015/3 (GnomAD_exomes)
                                HGVS:
                                18.

                                rs1484055100 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:104120606 (GRCh38)
                                  10:105880364 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:104120605:T:C
                                  Gene:
                                  SFR1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  19.

                                  rs1484021793 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:104122755 (GRCh38)
                                    10:105882513 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:104122754:G:A
                                    Gene:
                                    SFR1 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1483377184 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      10:104122223 (GRCh38)
                                      10:105881981 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:104122222:C:G,NC_000010.11:104122222:C:T
                                      Gene:
                                      SFR1 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:

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