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rs75622274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs75622274(C;C)
Make rs75622274(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44381058
GeneITGA2B
is asnp
is mentioned by
dbSNPrs75622274
ebirs75622274
HLIrs75622274
Exacrs75622274
Varsomers75622274
Maprs75622274
PheGenIrs75622274
hapmaprs75622274
1000 genomesrs75622274
hgdprs75622274
ensemblrs75622274
gopubmedrs75622274
geneviewrs75622274
scholarrs75622274
googlers75622274
pharmgkbrs75622274
gwascentralrs75622274
openSNPrs75622274
23andMers75622274
23andMe allrs75622274
SNP Nexus

SNPshotrs75622274
SNPdbers75622274
MSV3drs75622274
GWAS Ctlgrs75622274
Max Magnitude0
ClinVar
Risk rs75622274(C;C)
Alt rs75622274(C;C)
Reference rs75622274(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42458426A>G
CLNSRC
CLNACC


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