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Links from Gene

Items: 1 to 20 of 958

1.

rs1490705575 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:10801083 (GRCh38)
    12:10953682 (GRCh37)
    Canonical SPDI:
    NC_000012.12:10801082:A:G
    Gene:
    TAS2R7 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1489676090 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CC [Show Flanks]
      Chromosome:
      12:10803049 (GRCh38)
      12:10955649 (GRCh37)
      Canonical SPDI:
      NC_000012.12:10803049:CCC:CCCCC
      Gene:
      TAS2R7 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCC=0.000071/1 (ALFA)
      CC=0.000021/3 (GnomAD)
      CC=0.000026/7 (TOPMED)
      HGVS:
      3.

      rs1488342255 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:10801990 (GRCh38)
        12:10954589 (GRCh37)
        Canonical SPDI:
        NC_000012.12:10801989:A:G
        Gene:
        TAS2R7 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487728042 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          12:10802125 (GRCh38)
          12:10954724 (GRCh37)
          Canonical SPDI:
          NC_000012.12:10802124:G:C
          Gene:
          TAS2R7 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1486958767 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:10803832 (GRCh38)
            12:10956431 (GRCh37)
            Canonical SPDI:
            NC_000012.12:10803831:T:C
            Gene:
            TAS2R7 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_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:
            6.

            rs1483690917 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              12:10801543 (GRCh38)
              12:10954142 (GRCh37)
              Canonical SPDI:
              NC_000012.12:10801542:A:
              Gene:
              TAS2R7 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000071/1 (ALFA)
              -=0.000011/3 (TOPMED)
              -=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1481574308 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                12:10803759 (GRCh38)
                12:10956358 (GRCh37)
                Canonical SPDI:
                NC_000012.12:10803758:C:A,NC_000012.12:10803758:C:T
                Gene:
                TAS2R7 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1481338757 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  12:10802400 (GRCh38)
                  12:10954999 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:10802399:A:
                  Gene:
                  TAS2R7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1481262661 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:10803199 (GRCh38)
                    12:10955798 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:10803198:A:G
                    Gene:
                    TAS2R7 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1479056076 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:10802561 (GRCh38)
                      12:10955160 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:10802560:T:C
                      Gene:
                      TAS2R7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1478993555 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        12:10801966 (GRCh38)
                        12:10954565 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:10801965:A:T
                        Gene:
                        TAS2R7 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1476693958 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          12:10803503 (GRCh38)
                          12:10956102 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:10803502:G:A,NC_000012.12:10803502:G:C
                          Gene:
                          TAS2R7 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000019/5 (TOPMED)
                          C=0.005/3 (NorthernSweden)
                          HGVS:
                          13.

                          rs1476526264 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:10801212 (GRCh38)
                            12:10953811 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:10801211:A:G
                            Gene:
                            TAS2R7 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1476480714 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              12:10802714 (GRCh38)
                              12:10955314 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:10802714:A:AA
                              Gene:
                              TAS2R7 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AA=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1475685238 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                12:10804329 (GRCh38)
                                12:10956928 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:10804328:A:T
                                Gene:
                                TAS2R7 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000035/1 (TOMMO)
                                HGVS:
                                16.

                                rs1475330068 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  12:10802056 (GRCh38)
                                  12:10954655 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:10802055:C:G
                                  Gene:
                                  TAS2R7 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_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.

                                  rs1474639900 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:10801838 (GRCh38)
                                    12:10954437 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:10801837:T:C
                                    Gene:
                                    TAS2R7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1471402414 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      12:10802423 (GRCh38)
                                      12:10955022 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:10802422:T:C
                                      Gene:
                                      TAS2R7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1469537353 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        12:10804419 (GRCh38)
                                        12:10957018 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:10804418:G:A,NC_000012.12:10804418:G:C
                                        Gene:
                                        TAS2R7 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1468895648 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          12:10803605 (GRCh38)
                                          12:10956204 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:10803604:C:A
                                          Gene:
                                          TAS2R7 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000015/4 (TOPMED)
                                          HGVS:

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