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Items: 1 to 20 of 3762

1.

rs1491513021 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    19:6665821 (GRCh38)
    19:6665832 (GRCh37)
    Canonical SPDI:
    NC_000019.10:6665819:TTT:T
    Gene:
    TNFSF14 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1491371188 has merged into rs34381198 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
      Chromosome:
      19:6669751 (GRCh38)
      19:6669762 (GRCh37)
      Canonical SPDI:
      NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
      Gene:
      TNFSF14 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACACA=0./0 (ALFA)
      -=0.1977/762 (ALSPAC)
      AC=0.4351/2179 (1000Genomes)
      HGVS:
      NC_000019.10:g.6669739CA[6], NC_000019.10:g.6669739CA[7], NC_000019.10:g.6669739CA[8], NC_000019.10:g.6669739CA[9], NC_000019.10:g.6669739CA[10], NC_000019.10:g.6669739CA[11], NC_000019.10:g.6669739CA[12], NC_000019.10:g.6669739CA[13], NC_000019.10:g.6669739CA[14], NC_000019.10:g.6669739CA[15], NC_000019.10:g.6669739CA[16], NC_000019.10:g.6669739CA[17], NC_000019.10:g.6669739CA[19], NC_000019.10:g.6669739CA[20], NC_000019.10:g.6669739CA[21], NC_000019.10:g.6669739CA[22], NC_000019.10:g.6669739CA[23], NC_000019.10:g.6669739CA[24], NC_000019.10:g.6669739CA[25], NC_000019.10:g.6669739CA[26], NC_000019.10:g.6669739CA[27], NC_000019.10:g.6669739CA[31], NC_000019.9:g.6669750CA[6], NC_000019.9:g.6669750CA[7], NC_000019.9:g.6669750CA[8], NC_000019.9:g.6669750CA[9], NC_000019.9:g.6669750CA[10], NC_000019.9:g.6669750CA[11], NC_000019.9:g.6669750CA[12], NC_000019.9:g.6669750CA[13], NC_000019.9:g.6669750CA[14], NC_000019.9:g.6669750CA[15], NC_000019.9:g.6669750CA[16], NC_000019.9:g.6669750CA[17], NC_000019.9:g.6669750CA[19], NC_000019.9:g.6669750CA[20], NC_000019.9:g.6669750CA[21], NC_000019.9:g.6669750CA[22], NC_000019.9:g.6669750CA[23], NC_000019.9:g.6669750CA[24], NC_000019.9:g.6669750CA[25], NC_000019.9:g.6669750CA[26], NC_000019.9:g.6669750CA[27], NC_000019.9:g.6669750CA[31]
      3.

      rs1491323594 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        19:6669775 (GRCh38)
        19:6669786 (GRCh37)
        Canonical SPDI:
        NC_000019.10:6669773:AGA:A
        Gene:
        TNFSF14 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        -=0.00015/20 (GnomAD)
        -=0.001667/1 (NorthernSweden)
        -=0.084682/314 (TWINSUK)
        -=0.11754/453 (ALSPAC)
        HGVS:
        4.

        rs1491219819 has merged into rs1213628420 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TG>-,TGTG,TGTGTGTG [Show Flanks]
          Chromosome:
          19:6665782 (GRCh38)
          19:6665793 (GRCh37)
          Canonical SPDI:
          NC_000019.10:6665777:TGTGTG:TGTG,NC_000019.10:6665777:TGTGTG:TGTGTGTG,NC_000019.10:6665777:TGTGTG:TGTGTGTGTGTG
          Gene:
          TNFSF14 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTGTGTG=0./0 (ALFA)
          HGVS:
          5.

          rs1491013588 has merged into rs5826941 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            19:6666407 (GRCh38)
            19:6666418 (GRCh37)
            Canonical SPDI:
            NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            TNFSF14 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAAA=0./0 (ALFA)
            A=0.403/2018 (1000Genomes)
            HGVS:
            6.

            rs1490244502 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:6662663 (GRCh38)
              19:6662674 (GRCh37)
              Canonical SPDI:
              NC_000019.10:6662662:C:T
              Gene:
              TNFSF14 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490195119 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:6661685 (GRCh38)
                19:6661696 (GRCh37)
                Canonical SPDI:
                NC_000019.10:6661684:G:A
                Gene:
                TNFSF14 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1490087221 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:6664188 (GRCh38)
                  19:6664199 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:6664187:G:A
                  Gene:
                  TNFSF14 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490044845 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    GCTCTCAGCCTGTGCCCTGTCCTAC>- [Show Flanks]
                    Chromosome:
                    19:6669715 (GRCh38)
                    19:6669726 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:6669714:GCTCTCAGCCTGTGCCCTGTCCTAC:
                    Gene:
                    TNFSF14 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.000071/1 (ALFA)
                    -=0.000011/3 (TOPMED)
                    -=0.000022/3 (GnomAD)
                    HGVS:
                    10.
                    11.

                    rs1489715827 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:6662157 (GRCh38)
                      19:6662168 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:6662156:G:A
                      Gene:
                      TNFSF14 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1489666606 has merged into rs3215060 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        G>-,GG [Show Flanks]
                        Chromosome:
                        19:6667291 (GRCh38)
                        19:6667302 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:6667290:GGGGG:GGGG,NC_000019.10:6667290:GGGGG:GGGGGG
                        Gene:
                        TNFSF14 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGGG=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        G=0.000179/3 (TOMMO)
                        HGVS:
                        13.

                        rs1489646154 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:6665130 (GRCh38)
                          19:6665141 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:6665129:G:A
                          Gene:
                          TNFSF14 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          14.

                          rs1489624000 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            19:6670141 (GRCh38)
                            19:6670152 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:6670140:A:G
                            Gene:
                            TNFSF14 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            A=0.5/1 (SGDP_PRJ)
                            HGVS:
                            15.

                            rs1489540390 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:6659217 (GRCh38)
                              19:6659228 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:6659216:T:C
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000094/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1489317840 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:6662689 (GRCh38)
                                19:6662700 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:6662688:A:G
                                Gene:
                                TNFSF14 (Varview)
                                Functional Consequence:
                                3_prime_UTR_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.

                                rs1489087526 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:6660247 (GRCh38)
                                  19:6660258 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:6660246:T:C
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1488851740 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    19:6659999 (GRCh38)
                                    19:6660010 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:6659998:T:
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1488751439 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      19:6661137 (GRCh38)
                                      19:6661148 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:6661136:T:C
                                      Gene:
                                      TNFSF14 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1488742017 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:6669617 (GRCh38)
                                        19:6669628 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:6669616:A:G
                                        Gene:
                                        TNFSF14 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000023/6 (TOPMED)
                                        G=0.000389/7 (TOMMO)
                                        G=0.000546/1 (Korea1K)
                                        G=0.001027/3 (KOREAN)
                                        HGVS:

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