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rs75354240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs75354240(A;G)
Make rs75354240(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47283352
GeneITGB3
is asnp
is mentioned by
dbSNPrs75354240
dbSNP (classic)rs75354240
ClinGenrs75354240
ebirs75354240
HLIrs75354240
Exacrs75354240
Gnomadrs75354240
Varsomers75354240
LitVarrs75354240
Maprs75354240
PheGenIrs75354240
Biobankrs75354240
1000 genomesrs75354240
hgdprs75354240
ensemblrs75354240
geneviewrs75354240
scholarrs75354240
googlers75354240
pharmgkbrs75354240
gwascentralrs75354240
openSNPrs75354240
23andMers75354240
SNPshotrs75354240
SNPdbers75354240
MSV3drs75354240
GWAS Ctlgrs75354240
Max Magnitude0
ClinVar
Risk rs75354240(G;G)
Alt rs75354240(G;G)
Reference Rs75354240(A;A)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45360718A>G
CLNSRC
CLNACC