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

rs137852911

From SNPedia

Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Glanzmann's thromboasthenia
(C;T) 2 Carrier of a Glanzmann's thromboasthenia allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position44385193
GeneITGA2B
is asnp
is mentioned by
dbSNPrs137852911
ebirs137852911
HLIrs137852911
Exacrs137852911
Varsomers137852911
Maprs137852911
PheGenIrs137852911
hapmaprs137852911
1000 genomesrs137852911
hgdprs137852911
ensemblrs137852911
gopubmedrs137852911
geneviewrs137852911
scholarrs137852911
googlers137852911
pharmgkbrs137852911
gwascentralrs137852911
openSNPrs137852911
23andMers137852911
23andMe allrs137852911
SNP Nexus

SNPshotrs137852911
SNPdbers137852911
MSV3drs137852911
GWAS Ctlgrs137852911
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137852911(C;C)
Alt rs137852911(C;C)
Reference rs137852911(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42462561A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003035.2,