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Links from Nucleotide

Items: 1 to 20 of 203

1.

rs1491396915 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    9:87553495 (GRCh38)
    9:90168411 (GRCh37)
    Canonical SPDI:
    NC_000009.12:87553495:C:CC
    Gene:
    DAPK1 (Varview), DAPK1-IT1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CC=0./0 (ALFA)
    C=0.00001/1 (GnomAD)
    HGVS:
    2.

    rs1491301553 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      9:87553496 (GRCh38)
      9:90168411 (GRCh37)
      Canonical SPDI:
      NC_000009.12:87553494:TCT:T
      Gene:
      DAPK1 (Varview), DAPK1-IT1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.00008/1 (ALFA)
      HGVS:
      3.

      rs1485470576 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:87553504 (GRCh38)
        9:90168419 (GRCh37)
        Canonical SPDI:
        NC_000009.12:87553503:T:C
        Gene:
        DAPK1 (Varview), DAPK1-IT1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1483677860 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:87553559 (GRCh38)
          9:90168474 (GRCh37)
          Canonical SPDI:
          NC_000009.12:87553558:G:A
          Gene:
          DAPK1 (Varview), DAPK1-IT1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1483022892 has merged into rs10709417 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>-,A,AAA,AAAA [Show Flanks]
            Chromosome:
            9:87554458 (GRCh38)
            9:90169373 (GRCh37)
            Canonical SPDI:
            NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
            Gene:
            DAPK1 (Varview), DAPK1-IT1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAA=0.000466/7 (ALFA)
            -=0.111864/66 (NorthernSweden)
            -=0.15/6 (GENOME_DK)
            -=0.208712/55244 (TOPMED)
            HGVS:
            6.

            rs1478945509 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              9:87554356 (GRCh38)
              9:90169271 (GRCh37)
              Canonical SPDI:
              NC_000009.12:87554355:T:C,NC_000009.12:87554355:T:G
              Gene:
              DAPK1 (Varview), DAPK1-IT1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1477509290 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAT>- [Show Flanks]
                Chromosome:
                9:87554434 (GRCh38)
                9:90169349 (GRCh37)
                Canonical SPDI:
                NC_000009.12:87554428:AAAATAAAAT:AAAAT
                Gene:
                DAPK1 (Varview), DAPK1-IT1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAATAAAAT=0./0 (ALFA)
                -=0.000042/11 (TOPMED)
                -=0.000076/10 (GnomAD)
                HGVS:
                8.

                rs1474752108 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  9:87553553 (GRCh38)
                  9:90168468 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:87553552:T:G
                  Gene:
                  DAPK1 (Varview), DAPK1-IT1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1468503225 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    9:87553500 (GRCh38)
                    9:90168416 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:87553500::C
                    Gene:
                    DAPK1 (Varview), DAPK1-IT1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.00042/5 (ALFA)
                    HGVS:
                    10.

                    rs1467172439 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      9:87553535 (GRCh38)
                      9:90168450 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:87553534:G:A,NC_000009.12:87553534:G:T
                      Gene:
                      DAPK1 (Varview), DAPK1-IT1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      T=0.000066/8 (GnomAD)
                      T=0.000071/2 (TOMMO)
                      HGVS:
                      11.

                      rs1465255645 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        9:87554128 (GRCh38)
                        9:90169043 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:87554127:C:G,NC_000009.12:87554127:C:T
                        Gene:
                        DAPK1 (Varview), DAPK1-IT1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1464506270 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          9:87553532 (GRCh38)
                          9:90168447 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:87553531:G:C,NC_000009.12:87553531:G:T
                          Gene:
                          DAPK1 (Varview), DAPK1-IT1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          C=0.000078/10 (GnomAD)
                          HGVS:
                          13.

                          rs1453092807 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            9:87554232 (GRCh38)
                            9:90169147 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:87554231:A:C,NC_000009.12:87554231:A:G
                            Gene:
                            DAPK1 (Varview), DAPK1-IT1 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1447190333 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:87554017 (GRCh38)
                              9:90168932 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:87554016:C:T
                              Gene:
                              DAPK1 (Varview), DAPK1-IT1 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0./0 (GnomAD)
                              HGVS:
                              15.

                              rs1446804007 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:87553547 (GRCh38)
                                9:90168462 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:87553546:G:A
                                Gene:
                                DAPK1 (Varview), DAPK1-IT1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1446116393 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:87554039 (GRCh38)
                                  9:90168954 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:87554038:T:C
                                  Gene:
                                  DAPK1 (Varview), DAPK1-IT1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1445901201 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:87554122 (GRCh38)
                                    9:90169037 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:87554121:A:C
                                    Gene:
                                    DAPK1 (Varview), DAPK1-IT1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1445265216 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      T>- [Show Flanks]
                                      Chromosome:
                                      9:87553476 (GRCh38)
                                      9:90168391 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:87553475:TTTT:TTT
                                      Gene:
                                      DAPK1 (Varview), DAPK1-IT1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTT=0./0 (ALFA)
                                      -=0.000009/1 (GnomAD)
                                      -=0.000034/9 (TOPMED)
                                      -=0.000142/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1443471230 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        9:87554367 (GRCh38)
                                        9:90169282 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:87554366:G:A,NC_000009.12:87554366:G:C
                                        Gene:
                                        DAPK1 (Varview), DAPK1-IT1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        G=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1440473576 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          9:87553512 (GRCh38)
                                          9:90168427 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:87553511:T:G
                                          Gene:
                                          DAPK1 (Varview), DAPK1-IT1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.00011/15 (GnomAD)
                                          HGVS:

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