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Links from Gene

Items: 1 to 20 of 2986

1.

rs1491119522 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    1:1335762 (GRCh38)
    1:1271143 (GRCh37)
    Canonical SPDI:
    NC_000001.11:1335762:GGGGG:GGGGGG
    Gene:
    DVL1 (Varview), TAS1R3 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGG=0./0 (ALFA)
    G=0.000021/3 (GnomAD)
    G=0.000049/13 (TOPMED)
    G=0.000156/1 (1000Genomes)
    G=0.000546/1 (Korea1K)
    G=0.006477/109 (TOMMO)
    HGVS:
    2.

    rs1490892438 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:1333040 (GRCh38)
      1:1268420 (GRCh37)
      Canonical SPDI:
      NC_000001.11:1333039:G:A
      Gene:
      TAS1R3 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490402375 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:1332825 (GRCh38)
        1:1268205 (GRCh37)
        Canonical SPDI:
        NC_000001.11:1332824:G:A
        Gene:
        TAS1R3 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:
        4.

        rs1490298889 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:1335394 (GRCh38)
          1:1270774 (GRCh37)
          Canonical SPDI:
          NC_000001.11:1335393:T:C
          Gene:
          DVL1 (Varview), TAS1R3 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.0005/1 (Korea1K)
          HGVS:
          5.

          rs1490211311 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            1:1334860 (GRCh38)
            1:1270240 (GRCh37)
            Canonical SPDI:
            NC_000001.11:1334859:C:A,NC_000001.11:1334859:C:T
            Gene:
            DVL1 (Varview), TAS1R3 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490172907 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:1332389 (GRCh38)
              1:1267769 (GRCh37)
              Canonical SPDI:
              NC_000001.11:1332388:C:T
              Gene:
              TAS1R3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489790777 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:1334743 (GRCh38)
                1:1270123 (GRCh37)
                Canonical SPDI:
                NC_000001.11:1334742:G:A
                Gene:
                TAS1R3 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000084/1 (ALFA)
                A=0.000011/3 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                10.

                rs1488712570 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:1332464 (GRCh38)
                  1:1267844 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:1332463:G:T
                  Gene:
                  TAS1R3 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  11.

                  rs1488698406 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    1:1330496 (GRCh38)
                    1:1265876 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:1330495:A:C
                    Gene:
                    TAS1R3 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.001093/2 (Korea1K)
                    HGVS:
                    12.

                    rs1488586683 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:1330120 (GRCh38)
                      1:1265500 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:1330119:C:T
                      Gene:
                      TAS1R3 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      13.

                      rs1488225412 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        1:1334503 (GRCh38)
                        1:1269883 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:1334502:A:T
                        Gene:
                        TAS1R3 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.00001/1 (GnomAD_exomes)
                        HGVS:
                        14.

                        rs1488140781 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:1334197 (GRCh38)
                          1:1269577 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:1334196:C:T
                          Gene:
                          TAS1R3 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          HGVS:
                          15.

                          rs1487875275 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            1:1332356 (GRCh38)
                            1:1267736 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:1332355:C:G,NC_000001.11:1332355:C:T
                            Gene:
                            TAS1R3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000062/2 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000018/4 (GnomAD_exomes)
                            HGVS:
                            16.

                            rs1487403032 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:1335651 (GRCh38)
                              1:1271031 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:1335650:G:A
                              Gene:
                              DVL1 (Varview), TAS1R3 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              17.

                              rs1486661313 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:1329650 (GRCh38)
                                1:1265030 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:1329649:T:G
                                Gene:
                                TAS1R3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                18.

                                rs1486625669 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TG>- [Show Flanks]
                                  Chromosome:
                                  1:1329796 (GRCh38)
                                  1:1265176 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:1329789:TGTGTGTG:TGTGTG
                                  Gene:
                                  TAS1R3 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TGTGTG=0.000071/1 (ALFA)
                                  -=0.000087/12 (GnomAD)
                                  -=0.000087/23 (TOPMED)
                                  -=0.000142/2 (TOMMO)
                                  HGVS:
                                  19.

                                  rs1486532986 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:1330146 (GRCh38)
                                    1:1265526 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:1330145:C:G
                                    Gene:
                                    TAS1R3 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1486504675 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      1:1334404 (GRCh38)
                                      1:1269784 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:1334403:CCC:CC
                                      Gene:
                                      TAS1R3 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      HGVS:

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