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Links from Nucleotide

Items: 1 to 20 of 587

1.

rs1489989429 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:46610554 (GRCh38)
    19:47113811 (GRCh37)
    Canonical SPDI:
    NC_000019.10:46610553:A:G
    Gene:
    CALM3 (Varview), PTGIR (Varview), LOC124904729 (Varview)
    Functional Consequence:
    2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000216/4 (ALFA)
    G=0.000047/6 (GnomAD)
    G=0.00067/3 (Estonian)
    HGVS:
    2.

    rs1488290657 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:46610429 (GRCh38)
      19:47113686 (GRCh37)
      Canonical SPDI:
      NC_000019.10:46610428:T:C
      Gene:
      CALM3 (Varview), PTGIR (Varview), LOC124904729 (Varview)
      Functional Consequence:
      2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000014/2 (GnomAD)
      C=0.000023/6 (TOPMED)
      HGVS:
      3.
      4.

      rs1484987956 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGA>- [Show Flanks]
        Chromosome:
        19:46609711 (GRCh38)
        19:47112968 (GRCh37)
        Canonical SPDI:
        NC_000019.10:46609708:GAGGA:GA
        Gene:
        CALM3 (Varview), LOC124904729 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GA=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        -=0.000014/2 (GnomAD)
        HGVS:
        6.

        rs1482180990 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          A>- [Show Flanks]
          Chromosome:
          19:46601145 (GRCh38)
          19:47104402 (GRCh37)
          Canonical SPDI:
          NC_000019.10:46601144:A:
          Gene:
          CALM3 (Varview), PPP5D1P (Varview)
          Functional Consequence:
          2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.000071/1 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000156/1 (1000Genomes)
          HGVS:
          7.

          rs1481434470 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:46609548 (GRCh38)
            19:47112805 (GRCh37)
            Canonical SPDI:
            NC_000019.10:46609547:T:C
            Gene:
            CALM3 (Varview), LOC124904729 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            9.

            rs1476616729 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              19:46608219 (GRCh38)
              19:47111476 (GRCh37)
              Canonical SPDI:
              NC_000019.10:46608218:C:A
              Gene:
              CALM3 (Varview), LOC124904729 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              A=0.000071/2 (TOMMO)
              HGVS:
              10.

              rs1476588932 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:46609860 (GRCh38)
                19:47113117 (GRCh37)
                Canonical SPDI:
                NC_000019.10:46609859:T:C
                Gene:
                CALM3 (Varview), LOC124904729 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                11.

                rs1476188022 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  19:46601125 (GRCh38)
                  19:47104382 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:46601124:G:T
                  Gene:
                  CALM3 (Varview), PPP5D1P (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  12.

                  rs1474407049 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AA>- [Show Flanks]
                    Chromosome:
                    19:46610147 (GRCh38)
                    19:47113404 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:46610146:AA:
                    Gene:
                    CALM3 (Varview), LOC124904729 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    13.
                    14.

                    rs1469896995 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      19:46609407 (GRCh38)
                      19:47112664 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:46609406:A:T
                      Gene:
                      CALM3 (Varview), LOC124904729 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      15.

                      rs1469851781 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        19:46610753 (GRCh38)
                        19:47114010 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:46610752:G:C
                        Gene:
                        CALM3 (Varview), PTGIR (Varview), LOC124904729 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        16.

                        rs1469176880 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:46609733 (GRCh38)
                          19:47112990 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:46609732:G:A
                          Gene:
                          CALM3 (Varview), LOC124904729 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          17.

                          rs1468269875 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:46610404 (GRCh38)
                            19:47113661 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:46610403:T:C
                            Gene:
                            CALM3 (Varview), PTGIR (Varview), LOC124904729 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            18.
                            19.

                            rs1463523159 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:46609377 (GRCh38)
                              19:47112634 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:46609376:G:A
                              Gene:
                              CALM3 (Varview), LOC124904729 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000142/2 (ALFA)
                              A=0.000034/9 (TOPMED)
                              A=0.000064/9 (GnomAD)
                              HGVS:
                              20.

                              rs1463101364 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                19:46605832 (GRCh38)
                                19:47109089 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:46605831:C:G,NC_000019.10:46605831:C:T
                                Gene:
                                CALM3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000028/1 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000011/3 (TOPMED)
                                T=0.000035/1 (TOMMO)
                                T=0.001092/2 (Korea1K)
                                HGVS:

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