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rs79657230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79657230(C;T)
Make rs79657230(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44374673
GeneITGA2B
is asnp
is mentioned by
dbSNPrs79657230
ebirs79657230
HLIrs79657230
Exacrs79657230
Varsomers79657230
Maprs79657230
PheGenIrs79657230
hapmaprs79657230
1000 genomesrs79657230
hgdprs79657230
ensemblrs79657230
gopubmedrs79657230
geneviewrs79657230
scholarrs79657230
googlers79657230
pharmgkbrs79657230
gwascentralrs79657230
openSNPrs79657230
23andMers79657230
23andMe allrs79657230
SNP Nexus

SNPshotrs79657230
SNPdbers79657230
MSV3drs79657230
GWAS Ctlgrs79657230
Max Magnitude0
ClinVar
Risk rs79657230(T;T)
Alt rs79657230(T;T)
Reference rs79657230(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42452041G>A
CLNSRC
CLNACC