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rs80277041

From SNPedia

Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Glanzmann's thromboasthenia
(C;G) 2 Carrier of a Glanzmann's thromboasthenia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position44379689
GeneITGA2B
is asnp
is mentioned by
dbSNPrs80277041
ebirs80277041
HLIrs80277041
Exacrs80277041
Varsomers80277041
Maprs80277041
PheGenIrs80277041
hapmaprs80277041
1000 genomesrs80277041
hgdprs80277041
ensemblrs80277041
gopubmedrs80277041
geneviewrs80277041
scholarrs80277041
googlers80277041
pharmgkbrs80277041
gwascentralrs80277041
openSNPrs80277041
23andMers80277041
23andMe allrs80277041
SNP Nexus

SNPshotrs80277041
SNPdbers80277041
MSV3drs80277041
GWAS Ctlgrs80277041
Max Magnitude3

Glanzmann's thrombasthenia

ClinVar
Risk rs80277041(C;C)
Alt rs80277041(C;C)
Reference rs80277041(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42457057C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003037.2,