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Links from Nucleotide

Items: 1 to 20 of 389

3.

rs1490209157 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    9:111563142 (GRCh38)
    9:114325422 (GRCh37)
    Canonical SPDI:
    NC_000009.12:111563141:C:A
    Gene:
    PTGR1 (Varview), ZNF483 (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    4.

    rs1488546730 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      9:111599376 (GRCh38)
      9:114361656 (GRCh37)
      Canonical SPDI:
      NC_000009.12:111599375:T:G
      Gene:
      PTGR1 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      6.

      rs1487056184 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        9:111562981 (GRCh38)
        9:114325261 (GRCh37)
        Canonical SPDI:
        NC_000009.12:111562980:A:T
        Gene:
        PTGR1 (Varview), ZNF483 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        7.

        rs1485611333 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:111563114 (GRCh38)
          9:114325394 (GRCh37)
          Canonical SPDI:
          NC_000009.12:111563113:C:T
          Gene:
          PTGR1 (Varview), ZNF483 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
          HGVS:
          8.

          rs1483687250 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            9:111597330 (GRCh38)
            9:114359610 (GRCh37)
            Canonical SPDI:
            NC_000009.12:111597329:G:T
            Gene:
            PTGR1 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000028/1 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            9.

            rs1482035967 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:111570190 (GRCh38)
              9:114332470 (GRCh37)
              Canonical SPDI:
              NC_000009.12:111570189:A:G
              Gene:
              PTGR1 (Varview), ZNF483 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              11.

              rs1476170265 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:111599421 (GRCh38)
                9:114361701 (GRCh37)
                Canonical SPDI:
                NC_000009.12:111599420:G:A
                Gene:
                PTGR1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                12.

                rs1474566374 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:111597430 (GRCh38)
                  9:114359710 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:111597429:C:T
                  Gene:
                  PTGR1 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  14.
                  15.

                  rs1465466649 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:111563159 (GRCh38)
                    9:114325439 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:111563158:T:C
                    Gene:
                    PTGR1 (Varview), ZNF483 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    17.

                    rs1459048254 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      9:111583490 (GRCh38)
                      9:114345770 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:111583489:C:G
                      Gene:
                      PTGR1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      20.

                      rs1454806291 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        9:111578892 (GRCh38)
                        9:114341172 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:111578891:A:C
                        Gene:
                        PTGR1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000085/3 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000014/2 (GnomAD)
                        HGVS:

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