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Items: 1 to 20 of 1000

1.

rs1491567179 has merged into rs975834683 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA [Show Flanks]
    Chromosome:
    4:20699238 (GRCh38)
    4:20700861 (GRCh37)
    Canonical SPDI:
    NC_000004.12:20699234:AAAAA:AAA,NC_000004.12:20699234:AAAAA:AAAA,NC_000004.12:20699234:AAAAA:AAAAAA,NC_000004.12:20699234:AAAAA:AAAAAAA
    Gene:
    PACRGL (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAA=0.00019/3 (ALFA)
    -=0.00449/127 (TOMMO)
    -=0.01092/20 (Korea1K)
    HGVS:

    2.

    rs1491466300 has merged into rs57544923 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTT [Show Flanks]
      Chromosome:
      4:20745222 (GRCh38)
      4:20746845 (GRCh37)
      Canonical SPDI:
      NC_000004.12:20745214:TTTTTTTTT:TTTTTTT,NC_000004.12:20745214:TTTTTTTTT:TTTTTTTT,NC_000004.12:20745214:TTTTTTTTT:TTTTTTTTTT,NC_000004.12:20745214:TTTTTTTTT:TTTTTTTTTTT
      Gene:
      KCNIP4 (Varview), PACRGL (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0.01766/220 (ALFA)
      T=0.00032/5 (TOMMO)
      -=0.08511/344 (Estonian)
      HGVS:

      3.

      rs1491424125 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AT,ATAT,ATATAT,ATATATATATATATATAT [Show Flanks]
        Chromosome:
        4:20748558 (GRCh38)
        4:20750182 (GRCh37)
        Canonical SPDI:
        NC_000004.12:20748558:T:TAT,NC_000004.12:20748558:T:TATAT,NC_000004.12:20748558:T:TATATAT,NC_000004.12:20748558:T:TATATATATATATATATAT
        Gene:
        KCNIP4 (Varview), PACRGL (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TATAT=0./0 (ALFA)
        HGVS:

        4.

        rs1491252200 has merged into rs1231577515 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T [Show Flanks]
          Chromosome:
          4:20703512 (GRCh38)
          4:20705135 (GRCh37)
          Canonical SPDI:
          NC_000004.12:20703510:TTT:T,NC_000004.12:20703510:TTT:TT
          Gene:
          PACRGL (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.00428/72 (TOMMO)
          -=0.01148/21 (Korea1K)
          -=0.015/9 (NorthernSweden)
          -=0.02364/2189 (GnomAD)
          -=0.025/1 (GENOME_DK)
          -=0.11702/451 (ALSPAC)
          -=0.13296/493 (TWINSUK)
          HGVS:

          5.

          rs1491194692 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            4:20727283 (GRCh38)
            4:20728907 (GRCh37)
            Canonical SPDI:
            NC_000004.12:20727283:GGGG:GGGGG
            Gene:
            PACRGL (Varview)
            Functional Consequence:
            non_coding_transcript_variant,splice_acceptor_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGG=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491178663 has merged into rs971681978 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CAGAGGTG>-,CAGAGGTGCAGAGGTG [Show Flanks]
              Chromosome:
              4:20730441 (GRCh38)
              4:20732064 (GRCh37)
              Canonical SPDI:
              NC_000004.12:20730432:CAGAGGTGCAGAGGTG:CAGAGGTG,NC_000004.12:20730432:CAGAGGTGCAGAGGTG:CAGAGGTGCAGAGGTGCAGAGGTG
              Gene:
              KCNIP4 (Varview), PACRGL (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CAGAGGTGCAGAGGTG=0.00007/1 (ALFA)
              HGVS:
              NC_000004.12:g.20730433CAGAGGTG[1], NC_000004.12:g.20730433CAGAGGTG[3], NC_000004.11:g.20732056CAGAGGTG[1], NC_000004.11:g.20732056CAGAGGTG[3], NG_052969.1:g.1223304CACCTCTG[1], NG_052969.1:g.1223304CACCTCTG[3], NM_145048.5:c.*3092CAGAGGTG[1], NM_145048.5:c.*3092CAGAGGTG[3], NM_145048.4:c.*3092CAGAGGTG[1], NM_145048.4:c.*3092CAGAGGTG[3], XM_011513786.4:c.*3092CAGAGGTG[1], XM_011513786.4:c.*3092CAGAGGTG[3], XM_011513786.2:c.*3092CAGAGGTG[1], XM_011513786.2:c.*3092CAGAGGTG[3], XM_011513805.4:c.*3092CAGAGGTG[1], XM_011513805.4:c.*3092CAGAGGTG[3], XM_011513805.2:c.*3092CAGAGGTG[1], XM_011513805.2:c.*3092CAGAGGTG[3], XM_011513885.4:c.*1489CACCTCTG[1], XM_011513885.4:c.*1489CACCTCTG[3], XM_011513885.3:c.*1489CACCTCTG[1], XM_011513885.3:c.*1489CACCTCTG[3], XM_011513885.2:c.*1489CACCTCTG[1], XM_011513885.2:c.*1489CACCTCTG[3], NM_001258345.3:c.*3092CAGAGGTG[1], NM_001258345.3:c.*3092CAGAGGTG[3], NM_001258345.2:c.*3092CAGAGGTG[1], NM_001258345.2:c.*3092CAGAGGTG[3], XM_017007747.3:c.*3092CAGAGGTG[1], XM_017007747.3:c.*3092CAGAGGTG[3], XM_017007747.1:c.*3092CAGAGGTG[1], XM_017007747.1:c.*3092CAGAGGTG[3], XM_017007748.3:c.*3092CAGAGGTG[1], XM_017007748.3:c.*3092CAGAGGTG[3], XM_017007748.1:c.*3092CAGAGGTG[1], XM_017007748.1:c.*3092CAGAGGTG[3], NR_047661.3:n.3918CAGAGGTG[1], NR_047661.3:n.3918CAGAGGTG[3], NR_047661.2:n.3963CAGAGGTG[1], NR_047661.2:n.3963CAGAGGTG[3], NM_001317849.3:c.*3092CAGAGGTG[1], NM_001317849.3:c.*3092CAGAGGTG[3], NM_001317849.2:c.*3092CAGAGGTG[1], NM_001317849.2:c.*3092CAGAGGTG[3], NM_001258346.3:c.*3138CAGAGGTG[1], NM_001258346.3:c.*3138CAGAGGTG[3], NM_001258346.2:c.*3138CAGAGGTG[1], NM_001258346.2:c.*3138CAGAGGTG[3], NM_001130727.3:c.*3092CAGAGGTG[1], NM_001130727.3:c.*3092CAGAGGTG[3], NM_001130727.2:c.*3092CAGAGGTG[1], NM_001130727.2:c.*3092CAGAGGTG[3], XM_017007759.3:c.*3092CAGAGGTG[1], XM_017007759.3:c.*3092CAGAGGTG[3], XM_017007759.1:c.*3092CAGAGGTG[1], XM_017007759.1:c.*3092CAGAGGTG[3], XM_011513784.2:c.*3138CAGAGGTG[1], XM_011513784.2:c.*3138CAGAGGTG[3], XM_011513804.2:c.*3138CAGAGGTG[1], XM_011513804.2:c.*3138CAGAGGTG[3], NM_001330745.2:c.*3092CAGAGGTG[1], NM_001330745.2:c.*3092CAGAGGTG[3], NM_001330745.1:c.*3092CAGAGGTG[1], NM_001330745.1:c.*3092CAGAGGTG[3], NM_001330746.2:c.*3092CAGAGGTG[1], NM_001330746.2:c.*3092CAGAGGTG[3], NM_001330746.1:c.*3092CAGAGGTG[1], NM_001330746.1:c.*3092CAGAGGTG[3], NM_001330747.2:c.*3092CAGAGGTG[1], NM_001330747.2:c.*3092CAGAGGTG[3], NM_001330747.1:c.*3092CAGAGGTG[1], NM_001330747.1:c.*3092CAGAGGTG[3], NM_001330748.2:c.*3092CAGAGGTG[1], NM_001330748.2:c.*3092CAGAGGTG[3], NM_001330748.1:c.*3092CAGAGGTG[1], NM_001330748.1:c.*3092CAGAGGTG[3], XM_047449617.1:c.*3092CAGAGGTG[1], XM_047449617.1:c.*3092CAGAGGTG[3], XM_047449619.1:c.*3138CAGAGGTG[1], XM_047449619.1:c.*3138CAGAGGTG[3], XM_047449621.1:c.*3092CAGAGGTG[1], XM_047449621.1:c.*3092CAGAGGTG[3], XM_047449620.1:c.*3092CAGAGGTG[1], XM_047449620.1:c.*3092CAGAGGTG[3], XM_047449624.1:c.*3138CAGAGGTG[1], XM_047449624.1:c.*3138CAGAGGTG[3], XM_047449626.1:c.*3092CAGAGGTG[1], XM_047449626.1:c.*3092CAGAGGTG[3], XM_047449618.1:c.*3092CAGAGGTG[1], XM_047449618.1:c.*3092CAGAGGTG[3], XM_047449628.1:c.*3092CAGAGGTG[1], XM_047449628.1:c.*3092CAGAGGTG[3], XM_047449622.1:c.*3092CAGAGGTG[1], XM_047449622.1:c.*3092CAGAGGTG[3], XM_047449625.1:c.*3092CAGAGGTG[1], XM_047449625.1:c.*3092CAGAGGTG[3], XM_047449627.1:c.*3092CAGAGGTG[1], XM_047449627.1:c.*3092CAGAGGTG[3], XM_047449623.1:c.*3092CAGAGGTG[1], XM_047449623.1:c.*3092CAGAGGTG[3]

              7.

              rs1491150327 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                4:20749153 (GRCh38)
                4:20750776 (GRCh37)
                Canonical SPDI:
                NC_000004.12:20749151:TTT:T
                Gene:
                KCNIP4 (Varview), PACRGL (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:

                8.

                rs1491078456 has merged into rs35039845 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  4:20708977 (GRCh38)
                  4:20710600 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:20708965:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  PACRGL (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                  A=0.125/1 (KOREAN)
                  HGVS:

                  9.

                  rs1491068412 has merged into rs139805656 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GTGTGT>-,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
                    Chromosome:
                    4:20748890 (GRCh38)
                    4:20750513 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGT,NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:20748882:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
                    Gene:
                    KCNIP4 (Varview), PACRGL (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TGTGTGTGTGTGTGTGTGT=0.00018/2 (ALFA)
                    TG=0.325/13 (GENOME_DK)
                    HGVS:

                    10.

                    rs1490993601 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TAATCTT [Show Flanks]
                      Chromosome:
                      4:20729585 (GRCh38)
                      4:20731209 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:20729585:TAATCTT:TAATCTTTAATCTT
                      Gene:
                      KCNIP4 (Varview), PACRGL (Varview)
                      Functional Consequence:
                      intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TAATCTTTAATCTT=0./0 (ALFA)
                      TAATCTT=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000004.12:g.20729586_20729592dup, NC_000004.11:g.20731209_20731215dup, NG_052969.1:g.1224160_1224166dup, NM_025221.6:c.*490_*496dup, NM_025221.5:c.*490_*496dup, NM_147182.4:c.*490_*496dup, NM_147182.3:c.*490_*496dup, NM_147181.4:c.*490_*496dup, NM_147181.3:c.*490_*496dup, NM_147183.3:c.*490_*496dup, NM_001035003.2:c.*490_*496dup, NM_001035003.1:c.*490_*496dup, NM_001035004.2:c.*490_*496dup, NM_001035004.1:c.*490_*496dup, NM_001363504.2:c.*490_*496dup, NM_001363504.1:c.*490_*496dup, NM_145048.5:c.*2245_*2251dup, NM_145048.4:c.*2245_*2251dup, XM_011513786.4:c.*2245_*2251dup, XM_011513786.2:c.*2245_*2251dup, XM_011513805.4:c.*2245_*2251dup, XM_011513805.2:c.*2245_*2251dup, XM_011513885.4:c.*2345_*2351dup, XM_011513885.3:c.*2345_*2351dup, XM_011513885.2:c.*2345_*2351dup, NM_001258345.3:c.*2245_*2251dup, NM_001258345.2:c.*2245_*2251dup, XM_017007747.3:c.*2245_*2251dup, XM_017007747.1:c.*2245_*2251dup, XM_017007748.3:c.*2245_*2251dup, XM_017007748.1:c.*2245_*2251dup, NR_047661.3:n.3071_3077dup, NR_047661.2:n.3116_3122dup, NM_001317849.3:c.*2245_*2251dup, NM_001317849.2:c.*2245_*2251dup, NM_001258346.3:c.*2291_*2297dup, NM_001258346.2:c.*2291_*2297dup, NM_001130727.3:c.*2245_*2251dup, NM_001130727.2:c.*2245_*2251dup, XM_017007759.3:c.*2245_*2251dup, XM_017007759.1:c.*2245_*2251dup, XM_011513784.2:c.*2291_*2297dup, XM_011513804.2:c.*2291_*2297dup, NM_001330745.2:c.*2245_*2251dup, NM_001330745.1:c.*2245_*2251dup, NM_001330746.2:c.*2245_*2251dup, NM_001330746.1:c.*2245_*2251dup, NM_001330747.2:c.*2245_*2251dup, NM_001330747.1:c.*2245_*2251dup, NM_001330748.2:c.*2245_*2251dup, NM_001330748.1:c.*2245_*2251dup, XM_047449617.1:c.*2245_*2251dup, XM_047449619.1:c.*2291_*2297dup, XM_047449621.1:c.*2245_*2251dup, XM_047449620.1:c.*2245_*2251dup, XM_047449624.1:c.*2291_*2297dup, XM_047449626.1:c.*2245_*2251dup, XM_047449618.1:c.*2245_*2251dup, XM_047449628.1:c.*2245_*2251dup, XM_047449622.1:c.*2245_*2251dup, XM_047449625.1:c.*2245_*2251dup, XM_047449627.1:c.*2245_*2251dup, XM_047449623.1:c.*2245_*2251dup

                      11.

                      rs1490925408 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        4:20717580 (GRCh38)
                        4:20719203 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:20717579:T:G
                        Gene:
                        PACRGL (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1490856356 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          4:20745859 (GRCh38)
                          4:20747482 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:20745858:T:G
                          Gene:
                          KCNIP4 (Varview), PACRGL (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1490799730 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            4:20705725 (GRCh38)
                            4:20707348 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:20705724:C:A,NC_000004.12:20705724:C:G
                            Gene:
                            PACRGL (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1490793402 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:20709735 (GRCh38)
                              4:20711358 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:20709734:A:G
                              Gene:
                              PACRGL (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000004.12:g.20709735A>G, NC_000004.11:g.20711358A>G, NM_145048.5:c.328A>G, NM_145048.4:c.328A>G, NM_145048.3:c.328A>G, XM_011513786.4:c.472A>G, XM_011513786.3:c.472A>G, XM_011513786.2:c.472A>G, XM_011513786.1:c.472A>G, XM_011513805.4:c.328A>G, XM_011513805.3:c.328A>G, XM_011513805.2:c.328A>G, XM_011513805.1:c.328A>G, XR_925303.4:n.882A>G, XR_925303.3:n.882A>G, XR_925303.2:n.882A>G, XR_925303.1:n.882A>G, NM_001258345.3:c.328A>G, NM_001258345.2:c.328A>G, NM_001258345.1:c.328A>G, XM_017007747.3:c.472A>G, XM_017007747.2:c.472A>G, XM_017007747.1:c.472A>G, XM_017007748.3:c.328A>G, XM_017007748.2:c.328A>G, XM_017007748.1:c.328A>G, XR_925302.3:n.882A>G, XR_925302.2:n.882A>G, XR_925302.1:n.882A>G, XR_925306.3:n.882A>G, XR_925306.2:n.882A>G, XR_925306.1:n.882A>G, XR_001741142.3:n.882A>G, XR_001741142.2:n.882A>G, XR_001741142.1:n.882A>G, XM_011513784.2:c.472A>G, XM_011513784.1:c.472A>G, NR_133933.2:n.576A>G, NR_133933.1:n.576A>G, XM_047449617.1:c.472A>G, XM_047449621.1:c.391A>G, XM_047449620.1:c.472A>G, XM_047449626.1:c.391A>G, XM_047449618.1:c.472A>G, XM_047449622.1:c.391A>G, XM_047449625.1:c.391A>G, XM_047449627.1:c.328A>G, XM_047449623.1:c.328A>G, XR_007096362.1:n.1031A>G, XR_007096363.1:n.801A>G, XR_007096365.1:n.546A>G, XR_007096364.1:n.465A>G, XR_007096366.1:n.465A>G, NP_659485.1:p.Ser110Gly, XP_011512088.1:p.Ser158Gly, XP_011512107.1:p.Ser110Gly, NP_001245274.1:p.Ser110Gly, XP_016863236.1:p.Ser158Gly, XP_016863237.1:p.Ser110Gly, XP_011512086.1:p.Ser158Gly, XP_047305573.1:p.Ser158Gly, XP_047305577.1:p.Ser131Gly, XP_047305576.1:p.Ser158Gly, XP_047305582.1:p.Ser131Gly, XP_047305574.1:p.Ser158Gly, XP_047305578.1:p.Ser131Gly, XP_047305581.1:p.Ser131Gly, XP_047305583.1:p.Ser110Gly, XP_047305579.1:p.Ser110Gly

                              15.

                              rs1490786945 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                4:20731376 (GRCh38)
                                4:20732999 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:20731375:A:T
                                Gene:
                                KCNIP4 (Varview), PACRGL (Varview)
                                Functional Consequence:
                                intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000004.12:g.20731376A>T, NC_000004.11:g.20732999A>T, NG_052969.1:g.1222376T>A, NM_145048.5:c.*4035A>T, NM_145048.4:c.*4035A>T, XM_011513786.4:c.*4035A>T, XM_011513786.2:c.*4035A>T, XM_011513805.4:c.*4035A>T, XM_011513805.2:c.*4035A>T, XM_011513885.4:c.*561T>A, XM_011513885.3:c.*561T>A, XM_011513885.2:c.*561T>A, XM_011513885.1:c.*561T>A, NM_001258345.3:c.*4035A>T, NM_001258345.2:c.*4035A>T, XM_017007747.3:c.*4035A>T, XM_017007747.1:c.*4035A>T, XM_017007748.3:c.*4035A>T, XM_017007748.1:c.*4035A>T, NR_047661.3:n.4861A>T, NR_047661.2:n.4906A>T, NM_001317849.3:c.*4035A>T, NM_001317849.2:c.*4035A>T, NM_001258346.3:c.*4081A>T, NM_001258346.2:c.*4081A>T, NM_001130727.3:c.*4035A>T, NM_001130727.2:c.*4035A>T, XM_017007759.3:c.*4035A>T, XM_017007759.1:c.*4035A>T, XM_011513784.2:c.*4081A>T, XM_011513804.2:c.*4081A>T, NM_001330745.2:c.*4035A>T, NM_001330745.1:c.*4035A>T, NM_001330746.2:c.*4035A>T, NM_001330746.1:c.*4035A>T, NM_001330747.2:c.*4035A>T, NM_001330747.1:c.*4035A>T, NM_001330748.2:c.*4035A>T, NM_001330748.1:c.*4035A>T, XM_047449617.1:c.*4035A>T, XM_047449619.1:c.*4081A>T, XM_047449621.1:c.*4035A>T, XM_047449620.1:c.*4035A>T, XM_047449624.1:c.*4081A>T, XM_047449626.1:c.*4035A>T, XM_047449618.1:c.*4035A>T, XM_047449628.1:c.*4035A>T, XM_047449622.1:c.*4035A>T, XM_047449625.1:c.*4035A>T, XM_047449627.1:c.*4035A>T, XM_047449623.1:c.*4035A>T

                                16.

                                rs1490778119 has merged into rs3075750 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
                                  Chromosome:
                                  4:20748572 (GRCh38)
                                  4:20750195 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:20748560:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
                                  Gene:
                                  KCNIP4 (Varview), PACRGL (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TATATATATATAT=0./0 (ALFA)
                                  HGVS:
                                  NC_000004.12:g.20748562AT[5], NC_000004.12:g.20748562AT[6], NC_000004.12:g.20748562AT[7], NC_000004.12:g.20748562AT[8], NC_000004.12:g.20748562AT[9], NC_000004.12:g.20748562AT[10], NC_000004.12:g.20748562AT[11], NC_000004.12:g.20748562AT[12], NC_000004.12:g.20748562AT[13], NC_000004.12:g.20748562AT[14], NC_000004.12:g.20748562AT[15], NC_000004.12:g.20748562AT[16], NC_000004.12:g.20748562AT[17], NC_000004.12:g.20748562AT[18], NC_000004.12:g.20748562AT[19], NC_000004.12:g.20748562AT[20], NC_000004.12:g.20748562AT[21], NC_000004.12:g.20748562AT[23], NC_000004.12:g.20748562AT[24], NC_000004.12:g.20748562AT[25], NC_000004.12:g.20748562AT[26], NC_000004.12:g.20748562AT[27], NC_000004.12:g.20748562AT[28], NC_000004.12:g.20748562AT[29], NC_000004.12:g.20748562AT[31], NC_000004.11:g.20750185AT[5], NC_000004.11:g.20750185AT[6], NC_000004.11:g.20750185AT[7], NC_000004.11:g.20750185AT[8], NC_000004.11:g.20750185AT[9], NC_000004.11:g.20750185AT[10], NC_000004.11:g.20750185AT[11], NC_000004.11:g.20750185AT[12], NC_000004.11:g.20750185AT[13], NC_000004.11:g.20750185AT[14], NC_000004.11:g.20750185AT[15], NC_000004.11:g.20750185AT[16], NC_000004.11:g.20750185AT[17], NC_000004.11:g.20750185AT[18], NC_000004.11:g.20750185AT[19], NC_000004.11:g.20750185AT[20], NC_000004.11:g.20750185AT[21], NC_000004.11:g.20750185AT[23], NC_000004.11:g.20750185AT[24], NC_000004.11:g.20750185AT[25], NC_000004.11:g.20750185AT[26], NC_000004.11:g.20750185AT[27], NC_000004.11:g.20750185AT[28], NC_000004.11:g.20750185AT[29], NC_000004.11:g.20750185AT[31], NG_052969.1:g.1205148TA[5], NG_052969.1:g.1205148TA[6], NG_052969.1:g.1205148TA[7], NG_052969.1:g.1205148TA[8], NG_052969.1:g.1205148TA[9], NG_052969.1:g.1205148TA[10], NG_052969.1:g.1205148TA[11], NG_052969.1:g.1205148TA[12], NG_052969.1:g.1205148TA[13], NG_052969.1:g.1205148TA[14], NG_052969.1:g.1205148TA[15], NG_052969.1:g.1205148TA[16], NG_052969.1:g.1205148TA[17], NG_052969.1:g.1205148TA[18], NG_052969.1:g.1205148TA[19], NG_052969.1:g.1205148TA[20], NG_052969.1:g.1205148TA[21], NG_052969.1:g.1205148TA[23], NG_052969.1:g.1205148TA[24], NG_052969.1:g.1205148TA[25], NG_052969.1:g.1205148TA[26], NG_052969.1:g.1205148TA[27], NG_052969.1:g.1205148TA[28], NG_052969.1:g.1205148TA[29], NG_052969.1:g.1205148TA[31]

                                  17.

                                  rs1490755583 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:20724571 (GRCh38)
                                    4:20726194 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:20724570:C:T
                                    Gene:
                                    PACRGL (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000084/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490726334 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      4:20723703 (GRCh38)
                                      4:20725326 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:20723702:C:G,NC_000004.12:20723702:C:T
                                      Gene:
                                      PACRGL (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1490629727 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GAA>- [Show Flanks]
                                        Chromosome:
                                        4:20749824 (GRCh38)
                                        4:20751447 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:20749819:AGAAGAA:AGAA
                                        Gene:
                                        KCNIP4 (Varview), PACRGL (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AGAA=0./0 (ALFA)
                                        -=0.000014/2 (GnomAD)
                                        -=0.000057/15 (TOPMED)
                                        -=0.000156/1 (1000Genomes)
                                        -=0.012032/202 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1490614747 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          4:20748880 (GRCh38)
                                          4:20750503 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:20748879:G:A,NC_000004.12:20748879:G:T
                                          Gene:
                                          KCNIP4 (Varview), PACRGL (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.00034/31 (GnomAD)
                                          A=0.01306/38 (KOREAN)
                                          G=0.5/1 (SGDP_PRJ)
                                          HGVS:

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