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rs79560904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79560904(A;A)
Make rs79560904(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47286385
GeneITGB3
is asnp
is mentioned by
dbSNPrs79560904
dbSNP (classic)rs79560904
ClinGenrs79560904
ebirs79560904
HLIrs79560904
Exacrs79560904
Gnomadrs79560904
Varsomers79560904
LitVarrs79560904
Maprs79560904
PheGenIrs79560904
Biobankrs79560904
1000 genomesrs79560904
hgdprs79560904
ensemblrs79560904
geneviewrs79560904
scholarrs79560904
googlers79560904
pharmgkbrs79560904
gwascentralrs79560904
openSNPrs79560904
23andMers79560904
SNPshotrs79560904
SNPdbers79560904
MSV3drs79560904
GWAS Ctlgrs79560904
Max Magnitude0
ClinVar
Risk rs79560904(A;A)
Alt rs79560904(A;A)
Reference Rs79560904(G;G)
Significance Pathogenic
Disease Glanzmann thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45363751G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014537.27,