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Links from Nucleotide

Items: 1 to 20 of 909

1.

rs1489561904 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    15:91853755 (GRCh38)
    15:92396985 (GRCh37)
    Canonical SPDI:
    NC_000015.10:91853754:C:G
    Gene:
    SLCO3A1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000022/3 (GnomAD)
    G=0.000023/6 (TOPMED)
    HGVS:
    3.

    rs1487134968 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:91853914 (GRCh38)
      15:92397144 (GRCh37)
      Canonical SPDI:
      NC_000015.10:91853913:G:A
      Gene:
      SLCO3A1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.00006/1 (TOMMO)
      HGVS:
      4.

      rs1484885148 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        15:92104435 (GRCh38)
        15:92647665 (GRCh37)
        Canonical SPDI:
        NC_000015.10:92104434:A:G
        Gene:
        SLCO3A1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        5.
        6.

        rs1484460294 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:92171957 (GRCh38)
          15:92715187 (GRCh37)
          Canonical SPDI:
          NC_000015.10:92171956:C:T
          Gene:
          SLCO3A1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          7.

          rs1483180276 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:91853834 (GRCh38)
            15:92397064 (GRCh37)
            Canonical SPDI:
            NC_000015.10:91853833:C:T
            Gene:
            SLCO3A1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000008/1 (GnomAD)
            HGVS:
            8.

            rs1482146818 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:92171972 (GRCh38)
              15:92715202 (GRCh37)
              Canonical SPDI:
              NC_000015.10:92171971:G:A
              Gene:
              SLCO3A1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              9.

              rs1481368426 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                15:92171946 (GRCh38)
                15:92715176 (GRCh37)
                Canonical SPDI:
                NC_000015.10:92171945:C:A,NC_000015.10:92171945:C:T
                Gene:
                SLCO3A1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                10.

                rs1481292204 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:91853905 (GRCh38)
                  15:92397135 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:91853904:A:G
                  Gene:
                  SLCO3A1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.00008/1 (ALFA)
                  G=0.01587/43 (KOREAN)
                  A=0.5/1 (SGDP_PRJ)
                  A=0.5/1 (Siberian)
                  HGVS:
                  11.

                  rs1479421491 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    15:92171874 (GRCh38)
                    15:92715104 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:92171873:T:G
                    Gene:
                    SLCO3A1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    12.

                    rs1478710941 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:92126128 (GRCh38)
                      15:92669358 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:92126127:C:T
                      Gene:
                      SLCO3A1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      13.

                      rs1478016209 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        15:91853742 (GRCh38)
                        15:92396972 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:91853741:G:C,NC_000015.10:91853741:G:T
                        Gene:
                        SLCO3A1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        14.

                        rs1477752440 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAG>- [Show Flanks]
                          Chromosome:
                          15:91854002 (GRCh38)
                          15:92397232 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:91853998:AAGAAG:AAG
                          Gene:
                          SLCO3A1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,inframe_deletion
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.000005/1 (GnomAD_exomes)
                          -=0.000035/1 (TOMMO)
                          HGVS:
                          15.

                          rs1476702313 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:91916044 (GRCh38)
                            15:92459274 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:91916043:G:A
                            Gene:
                            SLCO3A1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (GnomAD)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            16.

                            rs1474804574 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              15:92171915 (GRCh38)
                              15:92715145 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:92171914:A:C
                              Gene:
                              SLCO3A1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              C=0.000029/4 (GnomAD)
                              HGVS:
                              17.

                              rs1474511935 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:92094936 (GRCh38)
                                15:92638166 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:92094935:T:C
                                Gene:
                                SLCO3A1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.0001/1 (ALFA)
                                HGVS:
                                18.

                                rs1472944290 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TATTA>- [Show Flanks]
                                  Chromosome:
                                  15:92172411 (GRCh38)
                                  15:92715641 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:92172406:ATTATATTA:ATTA
                                  Gene:
                                  SLCO3A1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ATTA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  20.

                                  rs1471220623 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    15:92126236 (GRCh38)
                                    15:92669466 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:92126235:G:T
                                    Gene:
                                    SLCO3A1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:

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