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rs74554539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74554539(A;A)
Make rs74554539(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47283379
GeneITGB3
is asnp
is mentioned by
dbSNPrs74554539
dbSNP (classic)rs74554539
ClinGenrs74554539
ebirs74554539
HLIrs74554539
Exacrs74554539
Gnomadrs74554539
Varsomers74554539
LitVarrs74554539
Maprs74554539
PheGenIrs74554539
Biobankrs74554539
1000 genomesrs74554539
hgdprs74554539
ensemblrs74554539
geneviewrs74554539
scholarrs74554539
googlers74554539
pharmgkbrs74554539
gwascentralrs74554539
openSNPrs74554539
23andMers74554539
SNPshotrs74554539
SNPdbers74554539
MSV3drs74554539
GWAS Ctlgrs74554539
Max Magnitude0
ClinVar
Risk rs74554539(A;A)
Alt rs74554539(A;A)
Reference Rs74554539(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45360745G>A
CLNSRC
CLNACC