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Links from Nucleotide

Items: 1 to 20 of 6196

1.

rs1491571854 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->AC,ATA,ATAC,ATATAC [Show Flanks]
    Chromosome:
    7:155073876 (GRCh38)
    7:154865587 (GRCh37)
    Canonical SPDI:
    NC_000007.14:155073876::AC,NC_000007.14:155073876::ATA,NC_000007.14:155073876::ATAC,NC_000007.14:155073876::ATATAC
    Gene:
    HTR5A (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATA=0./0 (ALFA)
    HGVS:
    2.

    rs1491405040 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>-,GTGT,GTGTGT,GTGTGTGT [Show Flanks]
      Chromosome:
      7:155073877 (GRCh38)
      7:154865587 (GRCh37)
      Canonical SPDI:
      NC_000007.14:155073875:TGT:T,NC_000007.14:155073875:TGT:TGTGT,NC_000007.14:155073875:TGT:TGTGTGT,NC_000007.14:155073875:TGT:TGTGTGTGT
      Gene:
      HTR5A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTGT=0./0 (ALFA)
      HGVS:
      3.

      rs1491154187 has merged into rs1436625736 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GT>-,GTGT,GTGTGT,GTGTGTGT [Show Flanks]
        Chromosome:
        7:155073889 (GRCh38)
        7:154865599 (GRCh37)
        Canonical SPDI:
        NC_000007.14:155073887:TGT:T,NC_000007.14:155073887:TGT:TGTGT,NC_000007.14:155073887:TGT:TGTGTGT,NC_000007.14:155073887:TGT:TGTGTGTGT
        Gene:
        HTR5A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGT=0./0 (ALFA)
        TGTG=0.00036/6 (TOMMO)
        TGTGTG=0.00056/1 (Korea1K)
        HGVS:
        4.

        rs1491065176 has merged into rs60282843 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>-,CACA,CACACA,CACACACA,CACACACACA [Show Flanks]
          Chromosome:
          7:155073840 (GRCh38)
          7:154865550 (GRCh37)
          Canonical SPDI:
          NC_000007.14:155073830:ACACACACACA:ACACACACA,NC_000007.14:155073830:ACACACACACA:ACACACACACACA,NC_000007.14:155073830:ACACACACACA:ACACACACACACACA,NC_000007.14:155073830:ACACACACACA:ACACACACACACACACA,NC_000007.14:155073830:ACACACACACA:ACACACACACACACACACA
          Gene:
          HTR5A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACACACACACACA=0./0 (ALFA)
          -=0./0 (GENOME_DK)
          -=0.103/516 (1000Genomes)
          HGVS:
          5.

          rs1491004514 has merged into rs151333626 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
            Chromosome:
            7:155073867 (GRCh38)
            7:154865577 (GRCh37)
            Canonical SPDI:
            NC_000007.14:155073865:TATATATATAT:T,NC_000007.14:155073865:TATATATATAT:TAT,NC_000007.14:155073865:TATATATATAT:TATAT,NC_000007.14:155073865:TATATATATAT:TATATAT,NC_000007.14:155073865:TATATATATAT:TATATATAT,NC_000007.14:155073865:TATATATATAT:TATATATATATAT,NC_000007.14:155073865:TATATATATAT:TATATATATATATAT
            Gene:
            HTR5A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TAT=0./0 (ALFA)
            -=0.31607/1172 (TWINSUK)
            -=0.3259/1256 (ALSPAC)
            HGVS:
            6.

            rs1490939749 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:155081348 (GRCh38)
              7:154873058 (GRCh37)
              Canonical SPDI:
              NC_000007.14:155081347:T:C
              Gene:
              HTR5A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490773776 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                7:155073669 (GRCh38)
                7:154865379 (GRCh37)
                Canonical SPDI:
                NC_000007.14:155073668:A:G
                Gene:
                HTR5A (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490720511 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:155088668 (GRCh38)
                  7:154880378 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:155088667:G:A
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490710374 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:155087776 (GRCh38)
                    7:154879486 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:155087775:C:T
                    Gene:
                    HTR5A (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490541077 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:155086399 (GRCh38)
                      7:154878109 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:155086398:G:A
                      Gene:
                      HTR5A (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000224/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000223/1 (Estonian)
                      HGVS:
                      11.

                      rs1490505937 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        7:155082768 (GRCh38)
                        7:154874478 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:155082767:C:G,NC_000007.14:155082767:C:T
                        Gene:
                        HTR5A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490449272 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          7:155081846 (GRCh38)
                          7:154873556 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:155081845:A:T
                          Gene:
                          HTR5A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000021/3 (GnomAD)
                          T=0.00003/8 (TOPMED)
                          T=0.000248/4 (TOMMO)
                          T=0.001027/3 (KOREAN)
                          T=0.001638/3 (Korea1K)
                          T=0.004717/1 (Vietnamese)
                          HGVS:
                          13.

                          rs1490256759 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TG [Show Flanks]
                            Chromosome:
                            7:155075777 (GRCh38)
                            7:154867488 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:155075777:TGTG:TGTGTG
                            Gene:
                            HTR5A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TGTGTG=0./0 (ALFA)
                            TG=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490231683 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTTT>- [Show Flanks]
                              Chromosome:
                              7:155089080 (GRCh38)
                              7:154880790 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:155089073:TTCTTTCTTT:TTCTTT
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTCTTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000008/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490098406 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:155085580 (GRCh38)
                                7:154877290 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:155085579:A:G
                                Gene:
                                HTR5A (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1490020142 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:155083279 (GRCh38)
                                  7:154874989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:155083278:A:G
                                  Gene:
                                  HTR5A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489944926 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:155082242 (GRCh38)
                                    7:154873952 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:155082241:T:C
                                    Gene:
                                    HTR5A (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489848856 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      7:155070162 (GRCh38)
                                      7:154861872 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:155070161:C:A,NC_000007.14:155070161:C:T
                                      Gene:
                                      HTR5A (Varview), HTR5A-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1489735766 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:155076145 (GRCh38)
                                        7:154867855 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:155076144:A:G
                                        Gene:
                                        HTR5A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489483167 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,T [Show Flanks]
                                          Chromosome:
                                          7:155077600 (GRCh38)
                                          7:154869310 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:155077599:A:C,NC_000007.14:155077599:A:T
                                          Gene:
                                          HTR5A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000084/1 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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