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Links from Nucleotide

Items: 19

1.

rs1464384018 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:160404788 (GRCh38)
    3:160122576 (GRCh37)
    Canonical SPDI:
    NC_000003.12:160404787:T:C
    Gene:
    SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1384473832 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:160404825 (GRCh38)
      3:160122613 (GRCh37)
      Canonical SPDI:
      NC_000003.12:160404824:C:T
      Gene:
      SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
      Functional Consequence:
      500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1341798864 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        3:160404818 (GRCh38)
        3:160122606 (GRCh37)
        Canonical SPDI:
        NC_000003.12:160404817:A:C
        Gene:
        SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
        Functional Consequence:
        intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1258574236 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          3:160404762 (GRCh38)
          3:160122550 (GRCh37)
          Canonical SPDI:
          NC_000003.12:160404761:C:A,NC_000003.12:160404761:C:T
          Gene:
          SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
          Functional Consequence:
          500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1258560931 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:160404770 (GRCh38)
            3:160122558 (GRCh37)
            Canonical SPDI:
            NC_000003.12:160404769:T:C
            Gene:
            SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
            Functional Consequence:
            500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1254426807 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:160404754 (GRCh38)
              3:160122542 (GRCh37)
              Canonical SPDI:
              NC_000003.12:160404753:T:C
              Gene:
              SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
              Functional Consequence:
              500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1199047064 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:160404751 (GRCh38)
                3:160122539 (GRCh37)
                Canonical SPDI:
                NC_000003.12:160404750:C:T
                Gene:
                SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1193058159 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  3:160404765 (GRCh38)
                  3:160122553 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:160404764:AAA:AA
                  Gene:
                  SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant
                  HGVS:
                  9.

                  rs781659399 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:160404750 (GRCh38)
                    3:160122538 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:160404749:A:G
                    Gene:
                    SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000009/1 (ExAC)
                    HGVS:
                    10.

                    rs777900452 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      3:160404775 (GRCh38)
                      3:160122563 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:160404774:G:A,NC_000003.12:160404774:G:C,NC_000003.12:160404774:G:T
                      Gene:
                      SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.00002/5 (GnomAD_exomes)
                      A=0.000029/3 (ExAC)
                      HGVS:
                      11.

                      rs775368833 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        3:160404800 (GRCh38)
                        3:160122588 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:160404799:A:G,NC_000003.12:160404799:A:T
                        Gene:
                        SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000087/2 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.00001/1 (ExAC)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs771786973 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          3:160404785 (GRCh38)
                          3:160122573 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:160404784:A:C,NC_000003.12:160404784:A:G
                          Gene:
                          SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          G=0.00001/1 (ExAC)
                          HGVS:
                          13.

                          rs768780684 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            3:160404809 (GRCh38)
                            3:160122597 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:160404808:T:C,NC_000003.12:160404808:T:G
                            Gene:
                            SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.00001/1 (ExAC)
                            G=0.000011/3 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs756199981 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:160404774 (GRCh38)
                              3:160122562 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:160404773:C:T
                              Gene:
                              SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000132/2 (ALFA)
                              T=0.00001/1 (ExAC)
                              T=0.000014/2 (GnomAD)
                              T=0.000223/1 (Estonian)
                              HGVS:
                              15.

                              rs749488063 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:160404784 (GRCh38)
                                3:160122572 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:160404783:T:C
                                Gene:
                                SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.00001/1 (ExAC)
                                HGVS:
                                16.

                                rs749204218 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:160404786 (GRCh38)
                                  3:160122574 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:160404785:T:C
                                  Gene:
                                  SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  T=0.5/1 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs748289135 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:160404763 (GRCh38)
                                    3:160122551 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:160404762:G:A
                                    Gene:
                                    SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000029/4 (GnomAD)
                                    A=0.000038/4 (ExAC)
                                    A=0.000049/12 (GnomAD_exomes)
                                    A=0.000053/14 (TOPMED)
                                    HGVS:
                                    18.

                                    rs746992239 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      3:160404798 (GRCh38)
                                      3:160122587 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:160404798:AA:AAA
                                      Gene:
                                      SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAA=0.000051/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      A=0.00001/1 (ExAC)
                                      HGVS:
                                      19.

                                      rs373202341 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:160404806 (GRCh38)
                                        3:160122594 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:160404805:C:T
                                        Gene:
                                        SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
                                        Functional Consequence:
                                        intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000013/3 (GnomAD_exomes)
                                        T=0.000019/5 (TOPMED)
                                        T=0.000021/2 (ExAC)
                                        T=0.000021/3 (GnomAD)
                                        T=0.000097/1 (GoESP)
                                        HGVS:

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