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rs77961246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs77961246(C;C)
Make rs77961246(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44377772
GeneITGA2B
is asnp
is mentioned by
dbSNPrs77961246
ebirs77961246
HLIrs77961246
Exacrs77961246
Varsomers77961246
Maprs77961246
PheGenIrs77961246
hapmaprs77961246
1000 genomesrs77961246
hgdprs77961246
ensemblrs77961246
gopubmedrs77961246
geneviewrs77961246
scholarrs77961246
googlers77961246
pharmgkbrs77961246
gwascentralrs77961246
openSNPrs77961246
23andMers77961246
23andMe allrs77961246
SNP Nexus

SNPshotrs77961246
SNPdbers77961246
MSV3drs77961246
GWAS Ctlgrs77961246
Max Magnitude0
ClinVar
Risk rs77961246(C;C)
Alt rs77961246(C;C)
Reference rs77961246(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42455140A>G
CLNSRC
CLNACC


[PMID 12083483] Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.