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rs79208797

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs79208797(C;C)
Make rs79208797(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47286310
GeneITGB3
is asnp
is mentioned by
dbSNPrs79208797
ebirs79208797
HLIrs79208797
Exacrs79208797
Varsomers79208797
Maprs79208797
PheGenIrs79208797
hapmaprs79208797
1000 genomesrs79208797
hgdprs79208797
ensemblrs79208797
gopubmedrs79208797
geneviewrs79208797
scholarrs79208797
googlers79208797
pharmgkbrs79208797
gwascentralrs79208797
openSNPrs79208797
23andMers79208797
23andMe allrs79208797
SNP Nexus

SNPshotrs79208797
SNPdbers79208797
MSV3drs79208797
GWAS Ctlgrs79208797
Max Magnitude0
ClinVar
Risk rs79208797(C;C)
Alt rs79208797(C;C)
Reference rs79208797(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45363676T>C
CLNSRC
CLNACC


[PMID 11897046] A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.