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Links from Nucleotide

Items: 1 to 20 of 23

1.

rs1458632016 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    6:44435683 (GRCh38)
    6:44403420 (GRCh37)
    Canonical SPDI:
    NC_000006.12:44435682:C:A
    Gene:
    CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
    HGVS:
    2.

    rs1427425809 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:44435650 (GRCh38)
      6:44403387 (GRCh37)
      Canonical SPDI:
      NC_000006.12:44435649:A:G
      Gene:
      CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_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:
      3.

      rs1384868402 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:44435712 (GRCh38)
        6:44403449 (GRCh37)
        Canonical SPDI:
        NC_000006.12:44435711:C:T
        Gene:
        CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1346138038 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C,G [Show Flanks]
          Chromosome:
          6:44435703 (GRCh38)
          6:44403440 (GRCh37)
          Canonical SPDI:
          NC_000006.12:44435702:T:A,NC_000006.12:44435702:T:C,NC_000006.12:44435702:T:G
          Gene:
          CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1334203552 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            6:44435657 (GRCh38)
            6:44403394 (GRCh37)
            Canonical SPDI:
            NC_000006.12:44435656:C:G,NC_000006.12:44435656:C:T
            Gene:
            CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000014/2 (GnomAD)
            G=0.000023/6 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1298418368 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              6:44435722 (GRCh38)
              6:44403459 (GRCh37)
              Canonical SPDI:
              NC_000006.12:44435721:G:T
              Gene:
              CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1269549110 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:44435677 (GRCh38)
                6:44403414 (GRCh37)
                Canonical SPDI:
                NC_000006.12:44435676:C:A
                Gene:
                CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1253296767 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:44435680 (GRCh38)
                  6:44403417 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:44435679:G:A
                  Gene:
                  CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_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:
                  9.

                  rs1228352628 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:44435682 (GRCh38)
                    6:44403419 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:44435681:G:A
                    Gene:
                    CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1170626331 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      6:44435642 (GRCh38)
                      6:44403379 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:44435641:A:T
                      Gene:
                      CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1167422112 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:44435700 (GRCh38)
                        6:44403437 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:44435699:C:T
                        Gene:
                        CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        HGVS:
                        12.

                        rs1053105397 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:44435692 (GRCh38)
                          6:44403429 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:44435691:A:G
                          Gene:
                          CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000064/9 (GnomAD)
                          HGVS:
                          13.

                          rs1036417753 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            6:44435715 (GRCh38)
                            6:44403452 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:44435714:C:A
                            Gene:
                            CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000142/2 (ALFA)
                            A=0.000178/47 (TOPMED)
                            A=0.000265/37 (GnomAD)
                            HGVS:
                            14.

                            rs948308920 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              6:44435653 (GRCh38)
                              6:44403390 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:44435652:G:A,NC_000006.12:44435652:G:T
                              Gene:
                              CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs941743742 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                6:44435707 (GRCh38)
                                6:44403444 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:44435706:G:C
                                Gene:
                                CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs934042304 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  6:44435676 (GRCh38)
                                  6:44403413 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:44435675:C:A
                                  Gene:
                                  CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000036/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs892743269 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->C [Show Flanks]
                                    Chromosome:
                                    6:44435694 (GRCh38)
                                    6:44403432 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:44435694:CC:CCC
                                    Gene:
                                    CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CCC=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs776000621 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:44435658 (GRCh38)
                                      6:44403395 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:44435657:G:A
                                      Gene:
                                      CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0./0 (TWINSUK)
                                      A=0.00026/1 (ALSPAC)
                                      HGVS:
                                      19.

                                      rs768906719 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:44435691 (GRCh38)
                                        6:44403428 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:44435690:A:G
                                        Gene:
                                        CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0./0 (ExAC)
                                        HGVS:
                                        20.

                                        rs572524399 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          6:44435664 (GRCh38)
                                          6:44403401 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:44435663:T:A,NC_000006.12:44435663:T:C
                                          Gene:
                                          CDC5L (Varview), POLR1C (Varview), MIR4642 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000347/5 (ALFA)
                                          A=0.001718/9 (1000Genomes)
                                          A=0.002535/671 (TOPMED)
                                          HGVS:

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