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Links from Gene

Items: 1 to 20 of 65

1.

rs1486253692 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    8:7558858 (GRCh38)
    8:7416380 (GRCh37)
    Canonical SPDI:
    NC_000008.11:7558857:C:A,NC_000008.11:7558857:C:T
    Gene:
    FAM90A7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.00134/4 (TOMMO)
    T=0.01763/14 (KOREAN)
    HGVS:
    2.

    rs1476199915 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      8:7558943 (GRCh38)
      8:7416465 (GRCh37)
      Canonical SPDI:
      NC_000008.11:7558942:T:G
      Gene:
      FAM90A7 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      3.

      rs1471977031 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        8:7558837 (GRCh38)
        8:7416359 (GRCh37)
        Canonical SPDI:
        NC_000008.11:7558836:C:A
        Gene:
        FAM90A7 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.00034/4 (ALFA)
        HGVS:
        4.

        rs1464659817 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          8:7559759 (GRCh38)
          8:7417281 (GRCh37)
          Canonical SPDI:
          NC_000008.11:7559758:G:C
          Gene:
          FAM90A7 (Varview), LOC105377800 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          HGVS:
          5.

          rs1460330510 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:7559009 (GRCh38)
            8:7416531 (GRCh37)
            Canonical SPDI:
            NC_000008.11:7559008:G:A
            Gene:
            FAM90A7 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1452993318 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              8:7558626 (GRCh38)
              8:7416148 (GRCh37)
              Canonical SPDI:
              NC_000008.11:7558625:C:A
              Gene:
              FAM90A7 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1450373479 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                8:7559147 (GRCh38)
                8:7416669 (GRCh37)
                Canonical SPDI:
                NC_000008.11:7559146:G:A
                Gene:
                FAM90A7 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1449735405 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:7558662 (GRCh38)
                  8:7416184 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:7558661:C:T
                  Gene:
                  FAM90A7 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1449216827 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    8:7558968 (GRCh38)
                    8:7416490 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:7558967:G:A
                    Gene:
                    FAM90A7 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1444248374 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:7558797 (GRCh38)
                      8:7416319 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:7558796:G:A
                      Gene:
                      FAM90A7 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.0027/32 (ALFA)
                      A=0.0254/160 (GnomAD)
                      HGVS:
                      11.

                      rs1432566470 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:7559005 (GRCh38)
                        8:7416527 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:7559004:C:T
                        Gene:
                        FAM90A7 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1432348458 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          8:7559543 (GRCh38)
                          8:7417065 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:7559542:T:G
                          Gene:
                          FAM90A7 (Varview), LOC105377800 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          HGVS:
                          13.

                          rs1417698392 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            8:7558956 (GRCh38)
                            8:7416478 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:7558955:G:C
                            Gene:
                            FAM90A7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1404728825 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              8:7558933 (GRCh38)
                              8:7416455 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:7558932:G:T
                              Gene:
                              FAM90A7 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.00008/1 (ALFA)
                              HGVS:
                              15.

                              rs1397297676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                8:7559152 (GRCh38)
                                8:7416674 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:7559151:C:A
                                Gene:
                                FAM90A7 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.00059/7 (ALFA)
                                A=0.00612/4 (GnomAD)
                                HGVS:
                                16.

                                rs1396643763 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  8:7558983 (GRCh38)
                                  8:7416505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:7558982:T:A
                                  Gene:
                                  FAM90A7 (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.0054/64 (ALFA)
                                  A=0.03147/142 (GnomAD_exomes)
                                  A=0.1718/747 (GnomAD)
                                  T=0.5/2 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs1382640866 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    8:7558593 (GRCh38)
                                    8:7416115 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:7558592:C:G
                                    Gene:
                                    FAM90A7 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.00017/2 (ALFA)
                                    HGVS:
                                    18.

                                    rs1381411425 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:7558818 (GRCh38)
                                      8:7416340 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:7558817:C:T
                                      Gene:
                                      FAM90A7 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1370940580 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:7558957 (GRCh38)
                                        8:7416479 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:7558956:G:A
                                        Gene:
                                        FAM90A7 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1364100583 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          8:7559548 (GRCh38)
                                          8:7417070 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:7559547:C:T
                                          Gene:
                                          FAM90A7 (Varview), LOC105377800 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                          HGVS:

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