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Links from Nucleotide

Items: 1 to 20 of 334

1.

rs1490487682 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    7:143478678 (GRCh38)
    7:143175771 (GRCh37)
    Canonical SPDI:
    NC_000007.14:143478677:A:C
    Gene:
    TAS2R41 (Varview), EPHA1-AS1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1490047461 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      7:143478048 (GRCh38)
      7:143175141 (GRCh37)
      Canonical SPDI:
      NC_000007.14:143478047:A:G
      Gene:
      TAS2R41 (Varview), EPHA1-AS1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1485582641 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        7:143478317 (GRCh38)
        7:143175410 (GRCh37)
        Canonical SPDI:
        NC_000007.14:143478316:T:G
        Gene:
        TAS2R41 (Varview), EPHA1-AS1 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1485514540 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          7:143477916 (GRCh38)
          7:143175009 (GRCh37)
          Canonical SPDI:
          NC_000007.14:143477915:T:G
          Gene:
          TAS2R41 (Varview), EPHA1-AS1 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1475138791 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            7:143478203 (GRCh38)
            7:143175296 (GRCh37)
            Canonical SPDI:
            NC_000007.14:143478202:A:T
            Gene:
            TAS2R41 (Varview), EPHA1-AS1 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1469884732 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:143478558 (GRCh38)
              7:143175651 (GRCh37)
              Canonical SPDI:
              NC_000007.14:143478557:A:G
              Gene:
              TAS2R41 (Varview), EPHA1-AS1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1468510309 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:143478052 (GRCh38)
                7:143175145 (GRCh37)
                Canonical SPDI:
                NC_000007.14:143478051:G:A
                Gene:
                TAS2R41 (Varview), EPHA1-AS1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1463014813 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  7:143478472 (GRCh38)
                  7:143175565 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:143478471:T:A,NC_000007.14:143478471:T:C
                  Gene:
                  TAS2R41 (Varview), EPHA1-AS1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1461230444 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    7:143477909 (GRCh38)
                    7:143175002 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:143477908:T:G
                    Gene:
                    TAS2R41 (Varview), EPHA1-AS1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (GnomAD_exomes)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1451568060 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TT [Show Flanks]
                      Chromosome:
                      7:143478203 (GRCh38)
                      7:143175297 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:143478203:TT:TTTT
                      Gene:
                      TAS2R41 (Varview), EPHA1-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      TT=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1450954665 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:143478134 (GRCh38)
                        7:143175227 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:143478133:C:T
                        Gene:
                        TAS2R41 (Varview), EPHA1-AS1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1448758649 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:143478702 (GRCh38)
                          7:143175795 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:143478701:C:T
                          Gene:
                          TAS2R41 (Varview), EPHA1-AS1 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1447264727 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            7:143478755 (GRCh38)
                            7:143175848 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:143478754:T:A
                            Gene:
                            TAS2R41 (Varview), EPHA1-AS1 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            HGVS:
                            14.

                            rs1445646627 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CTA [Show Flanks]
                              Chromosome:
                              7:143477968 (GRCh38)
                              7:143175062 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:143477968:A:ACTA
                              Gene:
                              TAS2R41 (Varview), EPHA1-AS1 (Varview)
                              Functional Consequence:
                              inframe_insertion,intron_variant,coding_sequence_variant
                              HGVS:
                              15.

                              rs1442097222 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:143478078 (GRCh38)
                                7:143175171 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:143478077:A:G
                                Gene:
                                TAS2R41 (Varview), EPHA1-AS1 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_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:
                                16.

                                rs1441702452 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  7:143478787 (GRCh38)
                                  7:143175880 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:143478786:G:T
                                  Gene:
                                  TAS2R41 (Varview), EPHA1-AS1 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  HGVS:
                                  17.

                                  rs1438566763 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    7:143478642 (GRCh38)
                                    7:143175735 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:143478641:T:G
                                    Gene:
                                    TAS2R41 (Varview), EPHA1-AS1 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1436897608 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      7:143478321 (GRCh38)
                                      7:143175414 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:143478320:G:T
                                      Gene:
                                      TAS2R41 (Varview), EPHA1-AS1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1432135455 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        7:143478205 (GRCh38)
                                        7:143175298 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:143478204:T:G
                                        Gene:
                                        TAS2R41 (Varview), EPHA1-AS1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1431527282 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:143478270 (GRCh38)
                                          7:143175363 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:143478269:T:C
                                          Gene:
                                          TAS2R41 (Varview), EPHA1-AS1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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