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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490369116 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    17:44559088 (GRCh38)
    17:42636456 (GRCh37)
    Canonical SPDI:
    NC_000017.11:44559087:T:A
    Gene:
    FZD2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by cluster
    HGVS:
    2.

    rs1490197432 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      17:44558635 (GRCh38)
      17:42636003 (GRCh37)
      Canonical SPDI:
      NC_000017.11:44558634:G:T
      Gene:
      FZD2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1489680952 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        17:44560735 (GRCh38)
        17:42638104 (GRCh37)
        Canonical SPDI:
        NC_000017.11:44560735:TTTTTTT:TTTTTTTT
        Gene:
        FZD2 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTTTTTT=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1488529571 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          17:44558165 (GRCh38)
          17:42635533 (GRCh37)
          Canonical SPDI:
          NC_000017.11:44558164:A:G
          Gene:
          FZD2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000005/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1487978099 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            17:44558024 (GRCh38)
            17:42635392 (GRCh37)
            Canonical SPDI:
            NC_000017.11:44558023:T:A,NC_000017.11:44558023:T:C
            Gene:
            FZD2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1487946939 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:44557086 (GRCh38)
              17:42634454 (GRCh37)
              Canonical SPDI:
              NC_000017.11:44557085:C:T
              Gene:
              FZD2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1487631882 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                17:44557517 (GRCh38)
                17:42634885 (GRCh37)
                Canonical SPDI:
                NC_000017.11:44557516:C:A
                Gene:
                FZD2 (Varview)
                Functional Consequence:
                5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                A=0.00003/8 (TOPMED)
                HGVS:
                8.

                rs1486314074 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:44555900 (GRCh38)
                  17:42633268 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:44555899:T:C
                  Gene:
                  FZD2 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1485731715 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:44560372 (GRCh38)
                    17:42637740 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:44560371:C:T
                    Gene:
                    FZD2 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485082847 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:44557734 (GRCh38)
                      17:42635102 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:44557733:C:T
                      Gene:
                      FZD2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      HGVS:
                      11.

                      rs1485042625 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        17:44555766 (GRCh38)
                        17:42633134 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:44555765:T:A
                        Gene:
                        FZD2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000017/2 (GnomAD)
                        A=0.000019/5 (TOPMED)
                        A=0.000035/0 (TOMMO)
                        A=0.000693/1 (Korea1K)
                        HGVS:
                        12.

                        rs1484670998 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:44556366 (GRCh38)
                          17:42633734 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:44556365:T:C
                          Gene:
                          FZD2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1484097713 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:44560083 (GRCh38)
                            17:42637451 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:44560082:C:T
                            Gene:
                            FZD2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1483406071 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              17:44557815 (GRCh38)
                              17:42635183 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:44557814:T:G
                              Gene:
                              FZD2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1483208630 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                17:44557120 (GRCh38)
                                17:42634488 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:44557119:A:G,NC_000017.11:44557119:A:T
                                Gene:
                                FZD2 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1482623183 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  17:44556808 (GRCh38)
                                  17:42634176 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:44556806:TTT:T
                                  Gene:
                                  FZD2 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1482497946 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:44557653 (GRCh38)
                                    17:42635021 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:44557652:G:A
                                    Gene:
                                    FZD2 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482489662 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:44561716 (GRCh38)
                                      17:42639084 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:44561715:A:G
                                      Gene:
                                      FZD2 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480532152 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        17:44559030 (GRCh38)
                                        17:42636398 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:44559029:G:T
                                        Gene:
                                        FZD2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1479348540 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          17:44556016 (GRCh38)
                                          17:42633384 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:44556015:C:A,NC_000017.11:44556015:C:G
                                          Gene:
                                          FZD2 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000312/2 (1000Genomes)
                                          HGVS:

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