Have questions? Visit https://www.reddit.com/r/SNPedia

rs74475415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74475415(A;C)
Make rs74475415(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position44376323
GeneITGA2B
is asnp
is mentioned by
dbSNPrs74475415
ebirs74475415
HLIrs74475415
Exacrs74475415
Varsomers74475415
Maprs74475415
PheGenIrs74475415
hapmaprs74475415
1000 genomesrs74475415
hgdprs74475415
ensemblrs74475415
gopubmedrs74475415
geneviewrs74475415
scholarrs74475415
googlers74475415
pharmgkbrs74475415
gwascentralrs74475415
openSNPrs74475415
23andMers74475415
23andMe allrs74475415
SNP Nexus

SNPshotrs74475415
SNPdbers74475415
MSV3drs74475415
GWAS Ctlgrs74475415
Max Magnitude0
ClinVar
Risk rs74475415(C;C)
Alt rs74475415(C;C)
Reference rs74475415(A;A)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42453691T>G
CLNSRC
CLNACC


[PMID 9763559] A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.