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rs74458693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74458693(A;A)
Make rs74458693(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47291088
GeneITGB3
is asnp
is mentioned by
dbSNPrs74458693
ebirs74458693
HLIrs74458693
Exacrs74458693
Varsomers74458693
Maprs74458693
PheGenIrs74458693
hapmaprs74458693
1000 genomesrs74458693
hgdprs74458693
ensemblrs74458693
gopubmedrs74458693
geneviewrs74458693
scholarrs74458693
googlers74458693
pharmgkbrs74458693
gwascentralrs74458693
openSNPrs74458693
23andMers74458693
23andMe allrs74458693
SNP Nexus

SNPshotrs74458693
SNPdbers74458693
MSV3drs74458693
GWAS Ctlgrs74458693
Max Magnitude0
ClinVar
Risk rs74458693(A;A)
Alt rs74458693(A;A)
Reference rs74458693(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45368454G>A
CLNSRC
CLNACC


[PMID 8878424OA-icon.png] Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.