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rs75427428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75427428(C;T)
Make rs75427428(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47274439
GeneITGB3
is asnp
is mentioned by
dbSNPrs75427428
ebirs75427428
HLIrs75427428
Exacrs75427428
Varsomers75427428
Maprs75427428
PheGenIrs75427428
hapmaprs75427428
1000 genomesrs75427428
hgdprs75427428
ensemblrs75427428
gopubmedrs75427428
geneviewrs75427428
scholarrs75427428
googlers75427428
pharmgkbrs75427428
gwascentralrs75427428
openSNPrs75427428
23andMers75427428
23andMe allrs75427428
SNP Nexus

SNPshotrs75427428
SNPdbers75427428
MSV3drs75427428
GWAS Ctlgrs75427428
Max Magnitude0
ClinVar
Risk rs75427428(T;T)
Alt rs75427428(T;T)
Reference rs75427428(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45351805C>T
CLNSRC
CLNACC


[PMID 9450787] Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.