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rs763330792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs763330792(G;T)
Make rs763330792(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44375719
GeneITGA2B
is asnp
is mentioned by
dbSNPrs763330792
dbSNP (classic)rs763330792
ClinGenrs763330792
ebirs763330792
HLIrs763330792
Exacrs763330792
Gnomadrs763330792
Varsomers763330792
LitVarrs763330792
Maprs763330792
PheGenIrs763330792
Biobankrs763330792
1000 genomesrs763330792
hgdprs763330792
ensemblrs763330792
geneviewrs763330792
scholarrs763330792
googlers763330792
pharmgkbrs763330792
gwascentralrs763330792
openSNPrs763330792
23andMers763330792
SNPshotrs763330792
SNPdbers763330792
MSV3drs763330792
GWAS Ctlgrs763330792
Max Magnitude0
ClinVar
Risk rs763330792(C;C) rs763330792(T;T)
Alt rs763330792(C;C) rs763330792(T;T)
Reference Rs763330792(G;G)
Significance Pathogenic
Disease Glanzmann thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann thrombasthenia
Reversed 0
HGVS NC_000017.10:g.42453087G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003027.2,