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Links from Nucleotide

Items: 1 to 20 of 497

1.

rs1490004580 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:11030982 (GRCh38)
    12:11183581 (GRCh37)
    Canonical SPDI:
    NC_000012.12:11030981:A:G
    Gene:
    PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
    HGVS:
    2.

    rs1487896339 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      12:11031082 (GRCh38)
      12:11183681 (GRCh37)
      Canonical SPDI:
      NC_000012.12:11031081:T:A,NC_000012.12:11031081:T:C
      Gene:
      PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.0002/3 (ALFA)
      HGVS:
      3.

      rs1484883393 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        12:11031397 (GRCh38)
        12:11183996 (GRCh37)
        Canonical SPDI:
        NC_000012.12:11031396:A:
        Gene:
        PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1483334268 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:11030908 (GRCh38)
          12:11183507 (GRCh37)
          Canonical SPDI:
          NC_000012.12:11030907:T:C
          Gene:
          PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1479858583 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            12:11030947 (GRCh38)
            12:11183546 (GRCh37)
            Canonical SPDI:
            NC_000012.12:11030946:A:G
            Gene:
            PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
            HGVS:
            6.

            rs1478428943 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              12:11031152 (GRCh38)
              12:11183751 (GRCh37)
              Canonical SPDI:
              NC_000012.12:11031151:A:C,NC_000012.12:11031151:A:G
              Gene:
              PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              C=0.000283/5 (TOMMO)
              HGVS:
              7.

              rs1475052340 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                12:11031086 (GRCh38)
                12:11183685 (GRCh37)
                Canonical SPDI:
                NC_000012.12:11031085:C:G,NC_000012.12:11031085:C:T
                Gene:
                PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1473575348 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:11031039 (GRCh38)
                  12:11183638 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:11031038:A:G
                  Gene:
                  PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1472900491 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:11030954 (GRCh38)
                    12:11183553 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:11030953:C:T
                    Gene:
                    PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1472609889 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      12:11030993 (GRCh38)
                      12:11183592 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:11030992:T:C,NC_000012.12:11030992:T:G
                      Gene:
                      PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1472592525 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        12:11030430 (GRCh38)
                        12:11183029 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:11030429:T:G
                        Gene:
                        PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.00026/4 (ALFA)
                        T=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1468806707 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:11030892 (GRCh38)
                          12:11183491 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:11030891:G:A
                          Gene:
                          PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1467631035 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            12:11030669 (GRCh38)
                            12:11183268 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:11030668:C:G
                            Gene:
                            PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1466056499 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              12:11031333 (GRCh38)
                              12:11183932 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:11031332:C:G
                              Gene:
                              PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                              Functional Consequence:
                              intron_variant,initiator_codon_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1463971585 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:11030525 (GRCh38)
                                12:11183124 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:11030524:A:G
                                Gene:
                                PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                HGVS:
                                16.

                                rs1463129266 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  12:11031275 (GRCh38)
                                  12:11183874 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:11031274:T:A,NC_000012.12:11031274:T:C
                                  Gene:
                                  PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1461191173 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:11031306 (GRCh38)
                                    12:11183905 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:11031305:G:A
                                    Gene:
                                    PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                                    Functional Consequence:
                                    intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.0009/8 (ALFA)
                                    HGVS:
                                    18.

                                    rs1458845204 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:11030699 (GRCh38)
                                      12:11183298 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:11030698:C:A
                                      Gene:
                                      PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1457776419 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        12:11030787 (GRCh38)
                                        12:11183386 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:11030786:T:G
                                        Gene:
                                        PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                                        Functional Consequence:
                                        intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1457577390 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          12:11030425 (GRCh38)
                                          12:11183024 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:11030424:T:C
                                          Gene:
                                          PRH1 (Varview), TAS2R31 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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