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rs80002943

From SNPedia

Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Carrier of a Glanzmann's thromboasthenia allele
(T;T) 3 Glanzmann's thromboasthenia
ReferenceGRCh38 38.1/141
Chromosome17
Position44374732
GeneITGA2B
is asnp
is mentioned by
dbSNPrs80002943
ebirs80002943
HLIrs80002943
Exacrs80002943
Varsomers80002943
Maprs80002943
PheGenIrs80002943
hapmaprs80002943
1000 genomesrs80002943
hgdprs80002943
ensemblrs80002943
gopubmedrs80002943
geneviewrs80002943
scholarrs80002943
googlers80002943
pharmgkbrs80002943
gwascentralrs80002943
openSNPrs80002943
23andMers80002943
23andMe allrs80002943
SNP Nexus

SNPshotrs80002943
SNPdbers80002943
MSV3drs80002943
GWAS Ctlgrs80002943
Max Magnitude3

Glanzmann's thrombasthenia

ClinVar
Risk rs80002943(T;T)
Alt rs80002943(T;T)
Reference rs80002943(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42452100G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003036.2,