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rs79775494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs79775494(A;T)
Make rs79775494(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47287128
GeneITGB3
is asnp
is mentioned by
dbSNPrs79775494
ebirs79775494
HLIrs79775494
Exacrs79775494
Varsomers79775494
Maprs79775494
PheGenIrs79775494
hapmaprs79775494
1000 genomesrs79775494
hgdprs79775494
ensemblrs79775494
gopubmedrs79775494
geneviewrs79775494
scholarrs79775494
googlers79775494
pharmgkbrs79775494
gwascentralrs79775494
openSNPrs79775494
23andMers79775494
23andMe allrs79775494
SNP Nexus

SNPshotrs79775494
SNPdbers79775494
MSV3drs79775494
GWAS Ctlgrs79775494
Max Magnitude0
ClinVar
Risk rs79775494(T;T)
Alt rs79775494(T;T)
Reference rs79775494(A;A)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45364494A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014536.22,