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Links from Nucleotide

Items: 1 to 20 of 662

1.

rs1490524333 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:38075180 (GRCh38)
    22:38471187 (GRCh37)
    Canonical SPDI:
    NC_000022.11:38075179:G:A
    Gene:
    PICK1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000015/3 (GnomAD_exomes)
    HGVS:
    2.

    rs1489069613 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:38069053 (GRCh38)
      22:38465060 (GRCh37)
      Canonical SPDI:
      NC_000022.11:38069052:C:T
      Gene:
      PICK1 (Varview)
      Functional Consequence:
      coding_sequence_variant,5_prime_UTR_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000108/2 (ALFA)
      T=0.000011/3 (TOPMED)
      T=0.000014/2 (GnomAD)
      T=0.000035/1 (TOMMO)
      T=0.000446/2 (Estonian)
      HGVS:
      3.

      rs1488983221 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        22:38071707 (GRCh38)
        22:38467714 (GRCh37)
        Canonical SPDI:
        NC_000022.11:38071706:C:T
        Gene:
        PICK1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        5.

        rs1482419214 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:38057487 (GRCh38)
          22:38453494 (GRCh37)
          Canonical SPDI:
          NC_000022.11:38057486:C:T
          Gene:
          PICK1 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          6.

          rs1482270231 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            22:38057454 (GRCh38)
            22:38453461 (GRCh37)
            Canonical SPDI:
            NC_000022.11:38057453:C:A
            Gene:
            PICK1 (Varview)
            Functional Consequence:
            intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000035/1 (TOMMO)
            HGVS:
            7.

            rs1481828598 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:38075170 (GRCh38)
              22:38471177 (GRCh37)
              Canonical SPDI:
              NC_000022.11:38075169:G:A
              Gene:
              PICK1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              A=0.000005/1 (GnomAD_exomes)
              HGVS:
              8.

              rs1480669332 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                22:38075547 (GRCh38)
                22:38471554 (GRCh37)
                Canonical SPDI:
                NC_000022.11:38075546:C:T
                Gene:
                PICK1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                9.
                11.

                rs1476989308 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  22:38067743 (GRCh38)
                  22:38463750 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:38067742:C:G
                  Gene:
                  PICK1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  13.

                  rs1472189621 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    22:38057376 (GRCh38)
                    22:38453383 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:38057375:G:A,NC_000022.11:38057375:G:T
                    Gene:
                    PICK1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    14.

                    rs1471522487 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      22:38075331 (GRCh38)
                      22:38471338 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:38075330:A:G
                      Gene:
                      PICK1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      G=0.000685/2 (KOREAN)
                      G=0.001094/2 (Korea1K)
                      HGVS:
                      15.

                      rs1470781167 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:38075629 (GRCh38)
                        22:38471636 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:38075628:C:T
                        Gene:
                        PICK1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        17.

                        rs1470647990 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          22:38072556 (GRCh38)
                          22:38468563 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:38072555:T:C
                          Gene:
                          PICK1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          18.

                          rs1470519087 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:38057797 (GRCh38)
                            22:38453804 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:38057796:A:G
                            Gene:
                            PICK1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

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