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Links from Gene

Items: 1 to 20 of 1130

1.

rs1491413297 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    6:132588453 (GRCh38)
    6:132909592 (GRCh37)
    Canonical SPDI:
    NC_000006.12:132588452:GT:
    Gene:
    TAAR5 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491088578 has merged into rs113928658 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATATATATA>-,TATATATA,TATATATATATA,TATATATATATACGTGTATATATATACGTATATATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATATATA [Show Flanks]
      Chromosome:
      6:132588458 (GRCh38)
      6:132909597 (GRCh37)
      Canonical SPDI:
      NC_000006.12:132588453:TATATATATATATA:TATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATACGTGTATATATATACGTATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATATATATATATATA
      Gene:
      TAAR5 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATATA=0./0 (ALFA)
      TA=0.18271/915 (1000Genomes)
      TA=0.18833/113 (NorthernSweden)
      HGVS:
      3.

      rs1490440493 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:132590897 (GRCh38)
        6:132912036 (GRCh37)
        Canonical SPDI:
        NC_000006.12:132590896:C:T
        Gene:
        TAAR5 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489997070 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTGTTTA [Show Flanks]
          Chromosome:
          6:132590364 (GRCh38)
          6:132911504 (GRCh37)
          Canonical SPDI:
          NC_000006.12:132590364:AGTGTTTA:AGTGTTTAGTGTTTA
          Gene:
          TAAR5 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AGTGTTTAGTGTTTA=0./0 (ALFA)
          AGTGTTT=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489574031 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            6:132591324 (GRCh38)
            6:132912463 (GRCh37)
            Canonical SPDI:
            NC_000006.12:132591323:A:T
            Gene:
            TAAR5 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000026/7 (TOPMED)
            T=0.000029/4 (GnomAD)
            HGVS:
            6.

            rs1488975551 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:132588199 (GRCh38)
              6:132909338 (GRCh37)
              Canonical SPDI:
              NC_000006.12:132588198:C:T
              Gene:
              TAAR5 (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000022/3 (GnomAD)
              HGVS:
              7.

              rs1488945026 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:132588404 (GRCh38)
                6:132909543 (GRCh37)
                Canonical SPDI:
                NC_000006.12:132588403:G:A
                Gene:
                TAAR5 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488914341 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  6:132588820 (GRCh38)
                  6:132909959 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:132588819:G:A,NC_000006.12:132588819:G:C
                  Gene:
                  TAAR5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.00004/1 (TOMMO)
                  HGVS:
                  9.

                  rs1488795597 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CGTGTATATACATACATA>- [Show Flanks]
                    Chromosome:
                    6:132588468 (GRCh38)
                    6:132909607 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:132588464:ATACGTGTATATACATACATA:ATA
                    Gene:
                    TAAR5 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    HGVS:
                    10.

                    rs1488029587 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:132588415 (GRCh38)
                      6:132909554 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:132588414:G:A
                      Gene:
                      TAAR5 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1487242028 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        6:132588892 (GRCh38)
                        6:132910031 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:132588891:C:G
                        Gene:
                        TAAR5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1486752714 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          6:132589516 (GRCh38)
                          6:132910655 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:132589515:A:T
                          Gene:
                          TAAR5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00003/8 (TOPMED)
                          T=0.00005/7 (GnomAD)
                          HGVS:
                          13.

                          rs1485384952 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            6:132590011 (GRCh38)
                            6:132911150 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:132590010:G:A,NC_000006.12:132590010:G:T
                            Gene:
                            TAAR5 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1484544965 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              6:132590391 (GRCh38)
                              6:132911530 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:132590390:T:A
                              Gene:
                              TAAR5 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,upstream_transcript_variant,intron_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.

                              rs1484492568 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:132588337 (GRCh38)
                                6:132909476 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:132588336:T:C
                                Gene:
                                TAAR5 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                C=0.000026/7 (TOPMED)
                                HGVS:
                                16.

                                rs1484328212 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  6:132588772 (GRCh38)
                                  6:132909911 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:132588771:A:C,NC_000006.12:132588771:A:G
                                  Gene:
                                  TAAR5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,stop_gained
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000071/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1484318365 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    6:132589393 (GRCh38)
                                    6:132910532 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:132589392:G:C,NC_000006.12:132589392:G:T
                                    Gene:
                                    TAAR5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484078066 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:132588483 (GRCh38)
                                      6:132909622 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:132588482:A:G
                                      Gene:
                                      TAAR5 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      A=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1483955486 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:132591147 (GRCh38)
                                        6:132912286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:132591146:G:A
                                        Gene:
                                        TAAR5 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1483951935 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          6:132591123 (GRCh38)
                                          6:132912262 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:132591122:A:G,NC_000006.12:132591122:A:T
                                          Gene:
                                          TAAR5 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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