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Links from Nucleotide

Items: 1 to 20 of 958

1.

rs1490926505 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    11:7438025 (GRCh38)
    11:7459256 (GRCh37)
    Canonical SPDI:
    NC_000011.10:7438019:AGAGAGA:AGAGA
    Gene:
    SYT9 (Varview), SYT9-AS1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAGA=0.000224/1 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000223/1 (Estonian)
    HGVS:
    2.

    rs1490897610 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:7438642 (GRCh38)
      11:7459873 (GRCh37)
      Canonical SPDI:
      NC_000011.10:7438641:G:A
      Gene:
      SYT9 (Varview), SYT9-AS1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490824812 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        11:7437652 (GRCh38)
        11:7458884 (GRCh37)
        Canonical SPDI:
        NC_000011.10:7437652:TT:TTT
        Gene:
        SYT9 (Varview), SYT9-AS1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTT=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        T=0.000177/3 (TOMMO)
        HGVS:
        4.

        rs1489186700 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          11:7440920 (GRCh38)
          11:7462151 (GRCh37)
          Canonical SPDI:
          NC_000011.10:7440919:G:C
          Gene:
          SYT9 (Varview), SYT9-AS1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000066/1 (ALFA)
          C=0.000014/2 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1488102206 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:7439078 (GRCh38)
            11:7460309 (GRCh37)
            Canonical SPDI:
            NC_000011.10:7439077:C:T
            Gene:
            SYT9 (Varview), SYT9-AS1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1488066619 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:7440611 (GRCh38)
              11:7461842 (GRCh37)
              Canonical SPDI:
              NC_000011.10:7440610:G:A
              Gene:
              SYT9 (Varview), SYT9-AS1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1488053053 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                11:7441266 (GRCh38)
                11:7462497 (GRCh37)
                Canonical SPDI:
                NC_000011.10:7441265:T:G
                Gene:
                SYT9 (Varview), SYT9-AS1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1487852697 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:7438042 (GRCh38)
                  11:7459273 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:7438041:G:A
                  Gene:
                  SYT9 (Varview), SYT9-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000019/5 (TOPMED)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1487739322 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    11:7437722 (GRCh38)
                    11:7458953 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:7437721:G:C
                    Gene:
                    SYT9 (Varview), SYT9-AS1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    C=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1487500906 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      11:7440083 (GRCh38)
                      11:7461314 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:7440082:C:G
                      Gene:
                      SYT9 (Varview), SYT9-AS1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1483056712 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:7437813 (GRCh38)
                        11:7459044 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:7437812:T:C
                        Gene:
                        SYT9 (Varview), SYT9-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000014/2 (GnomAD)
                        C=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1482372504 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          11:7440897 (GRCh38)
                          11:7462128 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:7440896:A:C
                          Gene:
                          SYT9 (Varview), SYT9-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1481953429 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:7440954 (GRCh38)
                            11:7462185 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:7440953:G:A
                            Gene:
                            SYT9 (Varview), SYT9-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1481859813 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:7438141 (GRCh38)
                              11:7459372 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:7438140:G:A
                              Gene:
                              SYT9 (Varview), SYT9-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1481375829 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:7437783 (GRCh38)
                                11:7459014 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:7437782:C:T
                                Gene:
                                SYT9 (Varview), SYT9-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1481085731 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  11:7438780 (GRCh38)
                                  11:7460011 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:7438779:C:A,NC_000011.10:7438779:C:T
                                  Gene:
                                  SYT9 (Varview), SYT9-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1480680873 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    11:7438826 (GRCh38)
                                    11:7460057 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:7438825:C:
                                    Gene:
                                    SYT9 (Varview), SYT9-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.000142/2 (ALFA)
                                    -=0.000072/10 (GnomAD)
                                    -=0.000261/69 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1479802914 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:7439259 (GRCh38)
                                      11:7460490 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:7439258:T:C
                                      Gene:
                                      SYT9 (Varview), SYT9-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479568049 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        11:7440826 (GRCh38)
                                        11:7462057 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:7440825:G:C,NC_000011.10:7440825:G:T
                                        Gene:
                                        SYT9 (Varview), SYT9-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1478730047 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:7440718 (GRCh38)
                                          11:7461949 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:7440717:A:G
                                          Gene:
                                          SYT9 (Varview), SYT9-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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