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rs587776811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTGCGGT;GCTGCGGT) 0 common in clinvar
Make rs587776811(-;-)
Make rs587776811(-;GCTGCGGT)
ReferenceGRCh38 38.1/142
Chromosome21
Position34880616
GeneLOC102724584, RUNX1
is asnp
is mentioned by
dbSNPrs587776811
dbSNP (classic)rs587776811
ClinGenrs587776811
ebirs587776811
HLIrs587776811
Exacrs587776811
Gnomadrs587776811
Varsomers587776811
LitVarrs587776811
Maprs587776811
PheGenIrs587776811
Biobankrs587776811
1000 genomesrs587776811
hgdprs587776811
ensemblrs587776811
geneviewrs587776811
scholarrs587776811
googlers587776811
pharmgkbrs587776811
gwascentralrs587776811
openSNPrs587776811
23andMers587776811
SNPshotrs587776811
SNPdbers587776811
MSV3drs587776811
GWAS Ctlgrs587776811
Max Magnitude0
ClinVar
Risk rs587776811(-;-)
Alt rs587776811(-;-)
Reference Rs587776811(GCTGCGGT;GCTGCGGT)
Significance Pathogenic
Disease Familial platelet disorder with associated myeloid malignancy
Variation info
Gene RUNX1
CLNDBN Familial platelet disorder with associated myeloid malignancy
Reversed 0
HGVS NC_000021.8:g.36252913_36252920delGCTGCGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015557.28,