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Links from Gene

Items: 1 to 20 of 3050

1.

rs1491584186 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    GT>-
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491557476 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TGGGGTGTGTGTGTG,TGGTGTGTGTGTG,TGTGGTGTGTGTGTG,TGTGTGGTGTGTGTGTG [Show Flanks]
      Chromosome:
      22:48542138 (GRCh38)
      22:48937951 (GRCh37)
      Canonical SPDI:
      NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGGGGTGTGTGTGTG,NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGGTGTGTGTGTG,NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGTGGTGTGTGTGTG,NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGTGTGGTGTGTGTGTG
      Gene:
      TAFA5 (Varview), LOC284933 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTGGTGTGTGTGTG=0./0 (ALFA)
      GTGTGTGTGTGTGTG=0.00005/1 (TOMMO)
      HGVS:
      3.

      rs1491518523 has merged into rs1343061011 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGGTGTGTGTGTGTG [Show Flanks]
        Chromosome:
        22:48542144 (GRCh38)
        22:48937956 (GRCh37)
        Canonical SPDI:
        NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTGTGTGTGGTGTGTGTGTGTG
        Gene:
        TAFA5 (Varview), LOC284933 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGTG=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491515306 has merged into rs199651526 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GG>-,G,GGG [Show Flanks]
          Chromosome:
          22:48542279 (GRCh38)
          22:48938091 (GRCh37)
          Canonical SPDI:
          NC_000022.11:48542274:GGGGGG:GGGG,NC_000022.11:48542274:GGGGGG:GGGGG,NC_000022.11:48542274:GGGGGG:GGGGGGG
          Gene:
          TAFA5 (Varview), LOC284933 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGGGG=0./0 (ALFA)
          -=0.005/3 (NorthernSweden)
          -=0.09813/489 (1000Genomes)
          -=0.23352/425 (Korea1K)
          HGVS:
          5.

          rs1491270661 has merged into rs1555886629 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TGTG>-,TG,TGTGTG,TGTGTGGTGTGTGTGTGTG,TGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTG,TGTGTGTG [Show Flanks]
            Chromosome:
            22:48542647 (GRCh38)
            22:48938459 (GRCh37)
            Canonical SPDI:
            NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTGGTGTGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTGTG
            Gene:
            TAFA5 (Varview), LOC284933 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGTGTGTGTG=0./0 (ALFA)
            -=0.00042/6 (TOMMO)
            HGVS:
            6.

            rs1491249010 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              22:48542096 (GRCh38)
              22:48937908 (GRCh37)
              Canonical SPDI:
              NC_000022.11:48542095:AT:
              Gene:
              TAFA5 (Varview), LOC284933 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000017/2 (GnomAD)
              HGVS:
              7.

              rs1491202512 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GGGTGTGTGTG,GTGTGTGTG [Show Flanks]
                Chromosome:
                22:48542639 (GRCh38)
                22:48938452 (GRCh37)
                Canonical SPDI:
                NC_000022.11:48542639:GTGTGTGTG:GTGTGTGTGGGGTGTGTGTG,NC_000022.11:48542639:GTGTGTGTG:GTGTGTGTGGTGTGTGTG
                Gene:
                TAFA5 (Varview), LOC284933 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GTGTGTGTGGTGTGTGTG=0./0 (ALFA)
                GTGTGTGTG=0.000004/1 (TOPMED)
                GTGTGTGTG=0.00004/1 (GnomAD)
                HGVS:
                8.

                rs1491199795 has merged into rs147056871 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TGGTGTGTGTGTGTGTGGTGTGTGTG>-,TGGTGTGTGTG,TGGTGTGTGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG [Show Flanks]
                  Chromosome:
                  22:48542105 (GRCh38)
                  22:48937917 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:48542096:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG:TGTGTGTG,NC_000022.11:48542096:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG:TGTGTGTGTGGTGTGTGTG,NC_000022.11:48542096:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG
                  Gene:
                  TAFA5 (Varview), LOC284933 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTGTGTG=0.00014/1 (ALFA)
                  TGTGTGTGTGGTGTG=0.1/4 (GENOME_DK)
                  TGTGTGGTGTGTGTG=0.31553/1170 (TWINSUK)
                  -=0.32821/5470 (TOMMO)
                  TGTGTGTGTGGTGTG=0.33667/202 (NorthernSweden)
                  HGVS:
                  9.

                  rs1491030149 has merged into rs151287754 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
                    Chromosome:
                    22:48542570 (GRCh38)
                    22:48938382 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:48542564:GTGTGTGTG:GTGTG,NC_000022.11:48542564:GTGTGTGTG:GTGTGTG,NC_000022.11:48542564:GTGTGTGTG:GTGTGTGTGTG,NC_000022.11:48542564:GTGTGTGTG:GTGTGTGTGTGTG
                    Gene:
                    TAFA5 (Varview), LOC284933 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GTGTGTG=0./0 (ALFA)
                    -=0.19708/987 (1000Genomes)
                    -=0.25775/449 (Korea1K)
                    -=0.27255/272 (GoNL)
                    -=0.3293/4335 (TOMMO)
                    -=0.4/16 (GENOME_DK)
                    HGVS:
                    10.

                    rs1491006839 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TG>- [Show Flanks]
                      Chromosome:
                      22:48542287 (GRCh38)
                      22:48938099 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:48542279:GTGTGTGTG:GTGTGTG
                      Gene:
                      TAFA5 (Varview), LOC284933 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GTGTGTG=0.000169/2 (ALFA)
                      -=0.00009/11 (GnomAD)
                      -=0.000098/2 (TOMMO)
                      HGVS:
                      11.

                      rs1490963099 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->G [Show Flanks]
                        Chromosome:
                        22:48542663 (GRCh38)
                        22:48938476 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:48542663:G:GG
                        Gene:
                        TAFA5 (Varview), LOC284933 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        GG=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490729336 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          22:48549160 (GRCh38)
                          22:48944972 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:48549159:C:T
                          Gene:
                          TAFA5 (Varview), LOC284933 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000043/6 (GnomAD)
                          T=0.000049/13 (TOPMED)
                          HGVS:
                          13.

                          rs1490728160 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:48548884 (GRCh38)
                            22:48944696 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:48548883:C:T
                            Gene:
                            TAFA5 (Varview), LOC284933 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490620989 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              22:48548228 (GRCh38)
                              22:48944040 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:48548225:CTCT:CT
                              Gene:
                              TAFA5 (Varview), LOC284933 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CTCT=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490471799 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TG>- [Show Flanks]
                                Chromosome:
                                22:48542528 (GRCh38)
                                22:48938340 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:48542523:TGTGTG:TGTG
                                Gene:
                                TAFA5 (Varview), LOC284933 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                TGTG=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490377407 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  22:48544831 (GRCh38)
                                  22:48940643 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:48544830:A:G
                                  Gene:
                                  TAFA5 (Varview), LOC284933 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490360119 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TGGTGTGTGTG>- [Show Flanks]
                                    Chromosome:
                                    22:48542265 (GRCh38)
                                    22:48938077 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:48542256:TGTGTGTGTGGTGTGTGTG:TGTGTGTG
                                    Gene:
                                    TAFA5 (Varview), LOC284933 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TGTGTGTG=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490235419 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      22:48547972 (GRCh38)
                                      22:48943784 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:48547971:T:C
                                      Gene:
                                      TAFA5 (Varview), LOC284933 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489981224 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        22:48542388 (GRCh38)
                                        22:48938200 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:48542387:G:A
                                        Gene:
                                        TAFA5 (Varview), LOC284933 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489495754 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAGGGGAAG>- [Show Flanks]
                                          Chromosome:
                                          22:48547421 (GRCh38)
                                          22:48943233 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:48547418:AGAAGGGGAAG:AG
                                          Gene:
                                          TAFA5 (Varview), LOC284933 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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