SNP Links for Gene (Select 861) - SNP

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Select item 14915636981.

rs1491563698 has merged into rs58465528 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 21:34878356 (GRCh38)
21:36250653 (GRCh37)
Canonical SPDI:: NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:34878344:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: RUNX1 (Varview), LOC112267915 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.34878356_34878361del, NC_000021.9:g.34878357_34878361del, NC_000021.9:g.34878358_34878361del, NC_000021.9:g.34878359_34878361del, NC_000021.9:g.34878360_34878361del, NC_000021.9:g.34878361del, NC_000021.9:g.34878361dup, NC_000021.9:g.34878360_34878361dup, NC_000021.9:g.34878358_34878361dup, NC_000021.8:g.36250653_36250658del, NC_000021.8:g.36250654_36250658del, NC_000021.8:g.36250655_36250658del, NC_000021.8:g.36250656_36250658del, NC_000021.8:g.36250657_36250658del, NC_000021.8:g.36250658del, NC_000021.8:g.36250658dup, NC_000021.8:g.36250657_36250658dup, NC_000021.8:g.36250655_36250658dup, NG_011402.2:g.1111362_1111367del, NG_011402.2:g.1111363_1111367del, NG_011402.2:g.1111364_1111367del, NG_011402.2:g.1111365_1111367del, NG_011402.2:g.1111366_1111367del, NG_011402.2:g.1111367del, NG_011402.2:g.1111367dup, NG_011402.2:g.1111366_1111367dup, NG_011402.2:g.1111364_1111367dup, XR_007067853.1:n.12124_12129del, XR_007067853.1:n.12125_12129del, XR_007067853.1:n.12126_12129del, XR_007067853.1:n.12127_12129del, XR_007067853.1:n.12128_12129del, XR_007067853.1:n.12129del, XR_007067853.1:n.12129dup, XR_007067853.1:n.12128_12129dup, XR_007067853.1:n.12126_12129dup

Select item 14915586492.

rs1491558649 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTA
Chromosome:: no mapping
Canonical SPDI:

Select item 14915445263.

rs1491544526 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:34826434 (GRCh38)
21:36198731 (GRCh37)
Canonical SPDI:: NC_000021.9:34826432:TCT:T
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000021.9:g.34826434_34826435del, NC_000021.8:g.36198731_36198732del, NG_011402.2:g.1163278_1163279del

Select item 14915345974.

rs1491534597 has merged into rs58321227 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:34804753 (GRCh38)
21:36177050 (GRCh37)
Canonical SPDI:: NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34804742:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.34804753_34804760del, NC_000021.9:g.34804755_34804760del, NC_000021.9:g.34804756_34804760del, NC_000021.9:g.34804757_34804760del, NC_000021.9:g.34804758_34804760del, NC_000021.9:g.34804759_34804760del, NC_000021.9:g.34804760del, NC_000021.9:g.34804760dup, NC_000021.9:g.34804759_34804760dup, NC_000021.9:g.34804758_34804760dup, NC_000021.9:g.34804757_34804760dup, NC_000021.9:g.34804756_34804760dup, NC_000021.9:g.34804755_34804760dup, NC_000021.9:g.34804753_34804760dup, NC_000021.8:g.36177050_36177057del, NC_000021.8:g.36177052_36177057del, NC_000021.8:g.36177053_36177057del, NC_000021.8:g.36177054_36177057del, NC_000021.8:g.36177055_36177057del, NC_000021.8:g.36177056_36177057del, NC_000021.8:g.36177057del, NC_000021.8:g.36177057dup, NC_000021.8:g.36177056_36177057dup, NC_000021.8:g.36177055_36177057dup, NC_000021.8:g.36177054_36177057dup, NC_000021.8:g.36177053_36177057dup, NC_000021.8:g.36177052_36177057dup, NC_000021.8:g.36177050_36177057dup, NG_011402.2:g.1184962_1184969del, NG_011402.2:g.1184964_1184969del, NG_011402.2:g.1184965_1184969del, NG_011402.2:g.1184966_1184969del, NG_011402.2:g.1184967_1184969del, NG_011402.2:g.1184968_1184969del, NG_011402.2:g.1184969del, NG_011402.2:g.1184969dup, NG_011402.2:g.1184968_1184969dup, NG_011402.2:g.1184967_1184969dup, NG_011402.2:g.1184966_1184969dup, NG_011402.2:g.1184965_1184969dup, NG_011402.2:g.1184964_1184969dup, NG_011402.2:g.1184962_1184969dup

Select item 14915273235.

rs1491527323 has merged into rs71324335 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:34918138 (GRCh38)
21:36290435 (GRCh37)
Canonical SPDI:: NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34918127:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.34918138_34918149del, NC_000021.9:g.34918139_34918149del, NC_000021.9:g.34918140_34918149del, NC_000021.9:g.34918141_34918149del, NC_000021.9:g.34918142_34918149del, NC_000021.9:g.34918143_34918149del, NC_000021.9:g.34918146_34918149del, NC_000021.9:g.34918147_34918149del, NC_000021.9:g.34918148_34918149del, NC_000021.9:g.34918149del, NC_000021.9:g.34918149dup, NC_000021.9:g.34918148_34918149dup, NC_000021.9:g.34918147_34918149dup, NC_000021.9:g.34918146_34918149dup, NC_000021.9:g.34918145_34918149dup, NC_000021.9:g.34918144_34918149dup, NC_000021.9:g.34918142_34918149dup, NC_000021.8:g.36290435_36290446del, NC_000021.8:g.36290436_36290446del, NC_000021.8:g.36290437_36290446del, NC_000021.8:g.36290438_36290446del, NC_000021.8:g.36290439_36290446del, NC_000021.8:g.36290440_36290446del, NC_000021.8:g.36290443_36290446del, NC_000021.8:g.36290444_36290446del, NC_000021.8:g.36290445_36290446del, NC_000021.8:g.36290446del, NC_000021.8:g.36290446dup, NC_000021.8:g.36290445_36290446dup, NC_000021.8:g.36290444_36290446dup, NC_000021.8:g.36290443_36290446dup, NC_000021.8:g.36290442_36290446dup, NC_000021.8:g.36290441_36290446dup, NC_000021.8:g.36290439_36290446dup, NG_011402.2:g.1071573_1071584del, NG_011402.2:g.1071574_1071584del, NG_011402.2:g.1071575_1071584del, NG_011402.2:g.1071576_1071584del, NG_011402.2:g.1071577_1071584del, NG_011402.2:g.1071578_1071584del, NG_011402.2:g.1071581_1071584del, NG_011402.2:g.1071582_1071584del, NG_011402.2:g.1071583_1071584del, NG_011402.2:g.1071584del, NG_011402.2:g.1071584dup, NG_011402.2:g.1071583_1071584dup, NG_011402.2:g.1071582_1071584dup, NG_011402.2:g.1071581_1071584dup, NG_011402.2:g.1071580_1071584dup, NG_011402.2:g.1071579_1071584dup, NG_011402.2:g.1071577_1071584dup

Select item 14915156156.

rs1491515615 has merged into rs1188609077 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 21:34926472 (GRCh38)
21:36298769 (GRCh37)
Canonical SPDI:: NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:34926461:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000021.9:g.34926472_34926485del, NC_000021.9:g.34926475_34926485del, NC_000021.9:g.34926476_34926485del, NC_000021.9:g.34926477_34926485del, NC_000021.9:g.34926478_34926485del, NC_000021.9:g.34926479_34926485del, NC_000021.9:g.34926480_34926485del, NC_000021.9:g.34926481_34926485del, NC_000021.9:g.34926482_34926485del, NC_000021.9:g.34926483_34926485del, NC_000021.9:g.34926484_34926485del, NC_000021.9:g.34926485del, NC_000021.9:g.34926485dup, NC_000021.9:g.34926484_34926485dup, NC_000021.9:g.34926483_34926485dup, NC_000021.9:g.34926482_34926485dup, NC_000021.9:g.34926481_34926485dup, NC_000021.9:g.34926480_34926485dup, NC_000021.9:g.34926479_34926485dup, NC_000021.8:g.36298769_36298782del, NC_000021.8:g.36298772_36298782del, NC_000021.8:g.36298773_36298782del, NC_000021.8:g.36298774_36298782del, NC_000021.8:g.36298775_36298782del, NC_000021.8:g.36298776_36298782del, NC_000021.8:g.36298777_36298782del, NC_000021.8:g.36298778_36298782del, NC_000021.8:g.36298779_36298782del, NC_000021.8:g.36298780_36298782del, NC_000021.8:g.36298781_36298782del, NC_000021.8:g.36298782del, NC_000021.8:g.36298782dup, NC_000021.8:g.36298781_36298782dup, NC_000021.8:g.36298780_36298782dup, NC_000021.8:g.36298779_36298782dup, NC_000021.8:g.36298778_36298782dup, NC_000021.8:g.36298777_36298782dup, NC_000021.8:g.36298776_36298782dup, NG_011402.2:g.1063237_1063250del, NG_011402.2:g.1063240_1063250del, NG_011402.2:g.1063241_1063250del, NG_011402.2:g.1063242_1063250del, NG_011402.2:g.1063243_1063250del, NG_011402.2:g.1063244_1063250del, NG_011402.2:g.1063245_1063250del, NG_011402.2:g.1063246_1063250del, NG_011402.2:g.1063247_1063250del, NG_011402.2:g.1063248_1063250del, NG_011402.2:g.1063249_1063250del, NG_011402.2:g.1063250del, NG_011402.2:g.1063250dup, NG_011402.2:g.1063249_1063250dup, NG_011402.2:g.1063248_1063250dup, NG_011402.2:g.1063247_1063250dup, NG_011402.2:g.1063246_1063250dup, NG_011402.2:g.1063245_1063250dup, NG_011402.2:g.1063244_1063250dup

Select item 14914909367.

rs1491490936 has merged into rs148086448 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 21:34993554 (GRCh38)
21:36365851 (GRCh37)
Canonical SPDI:: NC_000021.9:34993546:ACACACACACA:ACACACA,NC_000021.9:34993546:ACACACACACA:ACACACACA,NC_000021.9:34993546:ACACACACACA:ACACACACACACA,NC_000021.9:34993546:ACACACACACA:ACACACACACACACA
Gene:: RUNX1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACA=0./0 (ALFA)
AC=0.06174/1015 (TOMMO)
AC=0.07407/44 (NorthernSweden)
AC=0.17739/888 (1000Genomes)
AC=0.2/8 (GENOME_DK)
HGVS:: NC_000021.9:g.34993548CA[3], NC_000021.9:g.34993548CA[4], NC_000021.9:g.34993548CA[6], NC_000021.9:g.34993548CA[7], NC_000021.8:g.36365845CA[3], NC_000021.8:g.36365845CA[4], NC_000021.8:g.36365845CA[6], NC_000021.8:g.36365845CA[7], NG_011402.2:g.996156GT[3], NG_011402.2:g.996156GT[4], NG_011402.2:g.996156GT[6], NG_011402.2:g.996156GT[7]

Select item 14914745118.

rs1491474511 has merged into rs57397826 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 21:34928970 (GRCh38)
21:36301267 (GRCh37)
Canonical SPDI:: NC_000021.9:34928961:GGGGGGGGGGG:GGGGGGGG,NC_000021.9:34928961:GGGGGGGGGGG:GGGGGGGGG,NC_000021.9:34928961:GGGGGGGGGGG:GGGGGGGGGG,NC_000021.9:34928961:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000021.9:34928961:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000021.9:34928961:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000021.9:g.34928970_34928972del, NC_000021.9:g.34928971_34928972del, NC_000021.9:g.34928972del, NC_000021.9:g.34928972dup, NC_000021.9:g.34928971_34928972dup, NC_000021.9:g.34928970_34928972dup, NC_000021.8:g.36301267_36301269del, NC_000021.8:g.36301268_36301269del, NC_000021.8:g.36301269del, NC_000021.8:g.36301269dup, NC_000021.8:g.36301268_36301269dup, NC_000021.8:g.36301267_36301269dup, NG_011402.2:g.1060748_1060750del, NG_011402.2:g.1060749_1060750del, NG_011402.2:g.1060750del, NG_011402.2:g.1060750dup, NG_011402.2:g.1060749_1060750dup, NG_011402.2:g.1060748_1060750dup

Select item 14914685709.

rs1491468570 has merged into rs5843694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:34995445 (GRCh38)
21:36367742 (GRCh37)
Canonical SPDI:: NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34995435:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.34995445_34995458del, NC_000021.9:g.34995446_34995458del, NC_000021.9:g.34995447_34995458del, NC_000021.9:g.34995450_34995458del, NC_000021.9:g.34995452_34995458del, NC_000021.9:g.34995453_34995458del, NC_000021.9:g.34995454_34995458del, NC_000021.9:g.34995455_34995458del, NC_000021.9:g.34995456_34995458del, NC_000021.9:g.34995457_34995458del, NC_000021.9:g.34995458del, NC_000021.9:g.34995458dup, NC_000021.9:g.34995457_34995458dup, NC_000021.9:g.34995456_34995458dup, NC_000021.9:g.34995455_34995458dup, NC_000021.9:g.34995454_34995458dup, NC_000021.9:g.34995453_34995458dup, NC_000021.9:g.34995452_34995458dup, NC_000021.9:g.34995451_34995458dup, NC_000021.9:g.34995450_34995458dup, NC_000021.9:g.34995449_34995458dup, NC_000021.9:g.34995445_34995458dup, NC_000021.9:g.34995443_34995458dup, NC_000021.8:g.36367742_36367755del, NC_000021.8:g.36367743_36367755del, NC_000021.8:g.36367744_36367755del, NC_000021.8:g.36367747_36367755del, NC_000021.8:g.36367749_36367755del, NC_000021.8:g.36367750_36367755del, NC_000021.8:g.36367751_36367755del, NC_000021.8:g.36367752_36367755del, NC_000021.8:g.36367753_36367755del, NC_000021.8:g.36367754_36367755del, NC_000021.8:g.36367755del, NC_000021.8:g.36367755dup, NC_000021.8:g.36367754_36367755dup, NC_000021.8:g.36367753_36367755dup, NC_000021.8:g.36367752_36367755dup, NC_000021.8:g.36367751_36367755dup, NC_000021.8:g.36367750_36367755dup, NC_000021.8:g.36367749_36367755dup, NC_000021.8:g.36367748_36367755dup, NC_000021.8:g.36367747_36367755dup, NC_000021.8:g.36367746_36367755dup, NC_000021.8:g.36367742_36367755dup, NC_000021.8:g.36367740_36367755dup, NG_011402.2:g.994263_994276del, NG_011402.2:g.994264_994276del, NG_011402.2:g.994265_994276del, NG_011402.2:g.994268_994276del, NG_011402.2:g.994270_994276del, NG_011402.2:g.994271_994276del, NG_011402.2:g.994272_994276del, NG_011402.2:g.994273_994276del, NG_011402.2:g.994274_994276del, NG_011402.2:g.994275_994276del, NG_011402.2:g.994276del, NG_011402.2:g.994276dup, NG_011402.2:g.994275_994276dup, NG_011402.2:g.994274_994276dup, NG_011402.2:g.994273_994276dup, NG_011402.2:g.994272_994276dup, NG_011402.2:g.994271_994276dup, NG_011402.2:g.994270_994276dup, NG_011402.2:g.994269_994276dup, NG_011402.2:g.994268_994276dup, NG_011402.2:g.994267_994276dup, NG_011402.2:g.994263_994276dup, NG_011402.2:g.994261_994276dup

Select item 149146818510.

rs1491468185 has merged into rs571748934 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 21:35003538 (GRCh38)
21:36375835 (GRCh37)
Canonical SPDI:: NC_000021.9:35003530:AAAAAAAAA:AAAAAAA,NC_000021.9:35003530:AAAAAAAAA:AAAAAAAA,NC_000021.9:35003530:AAAAAAAAA:AAAAAAAAAA,NC_000021.9:35003530:AAAAAAAAA:AAAAAAAAAAA,NC_000021.9:35003530:AAAAAAAAA:AAAAAAAAAAAA
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00055/1 (Korea1K)
A=0.07368/369 (1000Genomes)
HGVS:: NC_000021.9:g.35003538_35003539del, NC_000021.9:g.35003539del, NC_000021.9:g.35003539dup, NC_000021.9:g.35003538_35003539dup, NC_000021.9:g.35003537_35003539dup, NC_000021.8:g.36375835_36375836del, NC_000021.8:g.36375836del, NC_000021.8:g.36375836dup, NC_000021.8:g.36375835_36375836dup, NC_000021.8:g.36375834_36375836dup, NG_011402.2:g.986180_986181del, NG_011402.2:g.986181del, NG_011402.2:g.986181dup, NG_011402.2:g.986180_986181dup, NG_011402.2:g.986179_986181dup

Select item 149145986311.

rs1491459863 has merged into rs59976658 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCTCTCTCTCTCT>-,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 21:35038589 (GRCh38)
21:36410886 (GRCh37)
Canonical SPDI:: NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: RUNX1 (Varview), RUNX1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000021.9:g.35038573CT[8], NC_000021.9:g.35038573CT[10], NC_000021.9:g.35038573CT[11], NC_000021.9:g.35038573CT[12], NC_000021.9:g.35038573CT[13], NC_000021.9:g.35038573CT[14], NC_000021.9:g.35038573CT[15], NC_000021.9:g.35038573CT[16], NC_000021.9:g.35038573CT[17], NC_000021.9:g.35038573CT[18], NC_000021.9:g.35038573CT[19], NC_000021.9:g.35038573CT[20], NC_000021.9:g.35038573CT[22], NC_000021.9:g.35038573CT[23], NC_000021.9:g.35038573CT[24], NC_000021.9:g.35038573CT[25], NC_000021.9:g.35038573CT[26], NC_000021.9:g.35038573CT[27], NC_000021.9:g.35038573CT[28], NC_000021.9:g.35038573CT[30], NC_000021.9:g.35038573CT[32], NC_000021.9:g.35038573CT[33], NC_000021.8:g.36410870CT[8], NC_000021.8:g.36410870CT[10], NC_000021.8:g.36410870CT[11], NC_000021.8:g.36410870CT[12], NC_000021.8:g.36410870CT[13], NC_000021.8:g.36410870CT[14], NC_000021.8:g.36410870CT[15], NC_000021.8:g.36410870CT[16], NC_000021.8:g.36410870CT[17], NC_000021.8:g.36410870CT[18], NC_000021.8:g.36410870CT[19], NC_000021.8:g.36410870CT[20], NC_000021.8:g.36410870CT[22], NC_000021.8:g.36410870CT[23], NC_000021.8:g.36410870CT[24], NC_000021.8:g.36410870CT[25], NC_000021.8:g.36410870CT[26], NC_000021.8:g.36410870CT[27], NC_000021.8:g.36410870CT[28], NC_000021.8:g.36410870CT[30], NC_000021.8:g.36410870CT[32], NC_000021.8:g.36410870CT[33], NG_011402.2:g.951098AG[8], NG_011402.2:g.951098AG[10], NG_011402.2:g.951098AG[11], NG_011402.2:g.951098AG[12], NG_011402.2:g.951098AG[13], NG_011402.2:g.951098AG[14], NG_011402.2:g.951098AG[15], NG_011402.2:g.951098AG[16], NG_011402.2:g.951098AG[17], NG_011402.2:g.951098AG[18], NG_011402.2:g.951098AG[19], NG_011402.2:g.951098AG[20], NG_011402.2:g.951098AG[22], NG_011402.2:g.951098AG[23], NG_011402.2:g.951098AG[24], NG_011402.2:g.951098AG[25], NG_011402.2:g.951098AG[26], NG_011402.2:g.951098AG[27], NG_011402.2:g.951098AG[28], NG_011402.2:g.951098AG[30], NG_011402.2:g.951098AG[32], NG_011402.2:g.951098AG[33], NR_026812.1:n.813AG[8], NR_026812.1:n.813AG[10], NR_026812.1:n.813AG[11], NR_026812.1:n.813AG[12], NR_026812.1:n.813AG[13], NR_026812.1:n.813AG[14], NR_026812.1:n.813AG[15], NR_026812.1:n.813AG[16], NR_026812.1:n.813AG[17], NR_026812.1:n.813AG[18], NR_026812.1:n.813AG[19], NR_026812.1:n.813AG[20], NR_026812.1:n.813AG[22], NR_026812.1:n.813AG[23], NR_026812.1:n.813AG[24], NR_026812.1:n.813AG[25], NR_026812.1:n.813AG[26], NR_026812.1:n.813AG[27], NR_026812.1:n.813AG[28], NR_026812.1:n.813AG[30], NR_026812.1:n.813AG[32], NR_026812.1:n.813AG[33], NM_025143.1:c.259_260dup, NM_025143.1:c.237_260del, NM_025143.1:c.241_260del, NM_025143.1:c.243_260del, NM_025143.1:c.245_260del, NM_025143.1:c.247_260del, NM_025143.1:c.249_260del, NM_025143.1:c.251_260del, NM_025143.1:c.253_260del, NM_025143.1:c.255_260del, NM_025143.1:c.257_260del, NM_025143.1:c.259_260del, NM_025143.1:c.257_260dup, NM_025143.1:c.255_260dup, NM_025143.1:c.253_260dup, NM_025143.1:c.251_260dup, NM_025143.1:c.249_260dup, NM_025143.1:c.247_260dup, NM_025143.1:c.245_260dup, NM_025143.1:c.241_260dup, NM_025143.1:c.237_260dup, NM_025143.1:c.235_260dup

Select item 149144555112.

rs1491445551 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT,GACT,GTAT,GTATAAT,T,TAAT,TT,TTATAT,TTATATATACT [Show Flanks]
Chromosome:: 21:34849411 (GRCh38)
21:36221709 (GRCh37)
Canonical SPDI:: NC_000021.9:34849411::CT,NC_000021.9:34849411::GACT,NC_000021.9:34849411::GTAT,NC_000021.9:34849411::GTATAAT,NC_000021.9:34849411::T,NC_000021.9:34849411::TAAT,NC_000021.9:34849411::TT,NC_000021.9:34849411::TTATAT,NC_000021.9:34849411::TTATATATACT
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GACT=0./0 (ALFA)
HGVS:: NC_000021.9:g.34849411_34849412insCT, NC_000021.9:g.34849411_34849412insGACT, NC_000021.9:g.34849411_34849412insGTAT, NC_000021.9:g.34849411_34849412insGTATAAT, NC_000021.9:g.34849411_34849412insT, NC_000021.9:g.34849411_34849412insTAAT, NC_000021.9:g.34849411_34849412insTT, NC_000021.9:g.34849411_34849412insTTATAT, NC_000021.9:g.34849411_34849412insTTATATATACT, NC_000021.8:g.36221708_36221709insCT, NC_000021.8:g.36221708_36221709insGACT, NC_000021.8:g.36221708_36221709insGTAT, NC_000021.8:g.36221708_36221709insGTATAAT, NC_000021.8:g.36221708_36221709insT, NC_000021.8:g.36221708_36221709insTAAT, NC_000021.8:g.36221708_36221709insTT, NC_000021.8:g.36221708_36221709insTTATAT, NC_000021.8:g.36221708_36221709insTTATATATACT, NG_011402.2:g.1140300_1140301insAG, NG_011402.2:g.1140300_1140301insAGTC, NG_011402.2:g.1140300_1140301insATAC, NG_011402.2:g.1140300_1140301insATTATAC, NG_011402.2:g.1140300_1140301insA, NG_011402.2:g.1140300_1140301insATTA, NG_011402.2:g.1140300_1140301insAA, NG_011402.2:g.1140300_1140301insATATAA, NG_011402.2:g.1140300_1140301insAGTATATATAA

Select item 149143278313.

rs1491432783 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAA [Show Flanks]
Chromosome:: 21:34852195 (GRCh38)
21:36224493 (GRCh37)
Canonical SPDI:: NC_000021.9:34852195:AAACAA:AAACAAACAA
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAACAAACAA=0./0 (ALFA)
AAAC=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.34852198_34852201dup, NC_000021.8:g.36224495_36224498dup, NG_011402.2:g.1137513_1137516dup

Select item 149142020714.

rs1491420207 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 21:35001308 (GRCh38)
21:36373605 (GRCh37)
Canonical SPDI:: NC_000021.9:35001305:TTTT:TT,NC_000021.9:35001305:TTTT:TTT,NC_000021.9:35001305:TTTT:TTTTTT
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00037/6 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000021.9:g.35001308_35001309del, NC_000021.9:g.35001309del, NC_000021.9:g.35001308_35001309dup, NC_000021.8:g.36373605_36373606del, NC_000021.8:g.36373606del, NC_000021.8:g.36373605_36373606dup, NG_011402.2:g.988405_988406del, NG_011402.2:g.988406del, NG_011402.2:g.988405_988406dup

Select item 149140964515.

rs1491409645 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 21:34878344 (GRCh38)
21:36250641 (GRCh37)
Canonical SPDI:: NC_000021.9:34878343:TA:
Gene:: RUNX1 (Varview), LOC112267915 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.34878344_34878345del, NC_000021.8:g.36250641_36250642del, NG_011402.2:g.1111367_1111368del, XR_007067853.1:n.12112_12113del

Select item 149140004916.

rs1491400049 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:34849332 (GRCh38)
21:36221629 (GRCh37)
Canonical SPDI:: NC_000021.9:34849331:CT:
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00295/35 (ALFA)
-=0.00133/42 (GnomAD)
-=0.00416/41 (TOMMO)
HGVS:: NC_000021.9:g.34849332_34849333del, NC_000021.8:g.36221629_36221630del, NG_011402.2:g.1140379_1140380del

Select item 149138202917.

rs1491382029 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 21:34993718 (GRCh38)
21:36366015 (GRCh37)
Canonical SPDI:: NC_000021.9:34993717:GG:
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.000536/61 (GnomAD)
HGVS:: NC_000021.9:g.34993718_34993719del, NC_000021.8:g.36366015_36366016del, NG_011402.2:g.995993_995994del

Select item 149137808218.

rs1491378082 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 21:34849411 (GRCh38)
21:36221708 (GRCh37)
Canonical SPDI:: NC_000021.9:34849410:AA:
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/4 (GnomAD)
HGVS:: NC_000021.9:g.34849411_34849412del, NC_000021.8:g.36221708_36221709del, NG_011402.2:g.1140300_1140301del

Select item 149136573219.

rs1491365732 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 21:34928962 (GRCh38)
21:36301260 (GRCh37)
Canonical SPDI:: NC_000021.9:34928962::C,NC_000021.9:34928962::T
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00014/3 (GnomAD)
HGVS:: NC_000021.9:g.34928962_34928963insC, NC_000021.9:g.34928962_34928963insT, NC_000021.8:g.36301259_36301260insC, NC_000021.8:g.36301259_36301260insT, NG_011402.2:g.1060749_1060750insG, NG_011402.2:g.1060749_1060750insA

Select item 149136389220.

rs1491363892 has merged into rs1555912714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 21:34989026 (GRCh38)
21:36361323 (GRCh37)
Canonical SPDI:: NC_000021.9:34989014:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:34989014:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:34989014:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34989014:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RUNX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.34989026_34989027del, NC_000021.9:g.34989027del, NC_000021.9:g.34989027dup, NC_000021.9:g.34989026_34989027dup, NC_000021.8:g.36361323_36361324del, NC_000021.8:g.36361324del, NC_000021.8:g.36361324dup, NC_000021.8:g.36361323_36361324dup, NG_011402.2:g.1000696_1000697del, NG_011402.2:g.1000697del, NG_011402.2:g.1000697dup, NG_011402.2:g.1000696_1000697dup

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