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Links from Nucleotide

Items: 1 to 20 of 108

1.

rs1481906028 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:144311658 (GRCh38)
    7:144008751 (GRCh37)
    Canonical SPDI:
    NC_000007.14:144311657:G:A
    Gene:
    OR2A1 (Varview), OR2A1-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1479442512 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      7:144355422 (GRCh38)
      7:144052515 (GRCh37)
      Canonical SPDI:
      NC_000007.14:144355421:G:A,NC_000007.14:144355421:G:T
      Gene:
      ARHGEF5 (Varview), OR2A1-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.00484/78 (ALFA)
      A=0.014454/1702 (GnomAD)
      A=0.03857/247 (1000Genomes)
      A=0.114903/202 (Korea1K)
      A=0.116115/330 (KOREAN)
      A=0.129454/2167 (TOMMO)
      G=0.461538/12 (SGDP_PRJ)
      HGVS:
      3.

      rs1475826664 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        7:144239728 (GRCh38)
        7:143936821 (GRCh37)
        Canonical SPDI:
        NC_000007.14:144239727:G:C
        Gene:
        OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1474222655 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          7:144238671 (GRCh38)
          7:143935764 (GRCh37)
          Canonical SPDI:
          NC_000007.14:144238670:T:A
          Gene:
          OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1473929016 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            7:144238697 (GRCh38)
            7:143935790 (GRCh37)
            Canonical SPDI:
            NC_000007.14:144238696:G:T
            Gene:
            OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000066/1 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1473696376 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:144239651 (GRCh38)
              7:143936744 (GRCh37)
              Canonical SPDI:
              NC_000007.14:144239650:C:T
              Gene:
              OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1472302163 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                7:144343297 (GRCh38)
                7:144040390 (GRCh37)
                Canonical SPDI:
                NC_000007.14:144343296:A:C,NC_000007.14:144343296:A:G,NC_000007.14:144343296:A:T
                Gene:
                OR2A1-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by cluster
                HGVS:
                8.

                rs1470153580 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  7:144238646 (GRCh38)
                  7:143935739 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:144238645:C:A,NC_000007.14:144238645:C:T
                  Gene:
                  OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  C=0.5/1 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs1470136535 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:144239740 (GRCh38)
                    7:143936833 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:144239739:A:G
                    Gene:
                    OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000084/1 (ALFA)
                    G=0.000022/3 (GnomAD)
                    HGVS:
                    10.

                    rs1469255398 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      7:144238672 (GRCh38)
                      7:143935765 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:144238671:G:A
                      Gene:
                      OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1467910638 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        T>C
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1465117928 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          7:144355339 (GRCh38)
                          7:144052432 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:144355338:T:A
                          Gene:
                          ARHGEF5 (Varview), OR2A1-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00025/4 (TOMMO)
                          A=0.00037/1 (KOREAN)
                          A=0.00114/2 (Korea1K)
                          HGVS:
                          13.

                          rs1462836514 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            7:144239686 (GRCh38)
                            7:143936779 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:144239685:C:A
                            Gene:
                            OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000015/2 (GnomAD)
                            A=0.000071/1 (TOMMO)
                            HGVS:
                            14.

                            rs1459250306 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              7:144239594 (GRCh38)
                              7:143936687 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:144239593:T:A,NC_000007.14:144239593:T:C
                              Gene:
                              OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              A=0.000016/2 (GnomAD)
                              HGVS:
                              15.

                              rs1455738883 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:144355420 (GRCh38)
                                7:144052513 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:144355419:C:T
                                Gene:
                                ARHGEF5 (Varview), OR2A1-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1453667523 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  7:144238705 (GRCh38)
                                  7:143935798 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:144238704:GG:G
                                  Gene:
                                  OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GG=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1449642453 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G [Show Flanks]
                                    Chromosome:
                                    7:144355446 (GRCh38)
                                    7:144052539 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:144355445:C:A,NC_000007.14:144355445:C:G
                                    Gene:
                                    ARHGEF5 (Varview), OR2A1-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.00006/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1447924285 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      7:144239670 (GRCh38)
                                      7:143936763 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:144239669:C:A
                                      Gene:
                                      OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1442083722 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        7:144239683 (GRCh38)
                                        7:143936776 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:144239682:A:C,NC_000007.14:144239682:A:G
                                        Gene:
                                        OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1418499968 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          7:144239661 (GRCh38)
                                          7:143936754 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:144239660:G:A
                                          Gene:
                                          OR2A42 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/1 (GnomAD)
                                          HGVS:

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