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rs137852910

From SNPedia

Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Glanzmann's thromboasthenia
(A;G) 2 Carrier of a Glanzmann's thromboasthenia allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome17
Position44383640
GeneITGA2B
is asnp
is mentioned by
dbSNPrs137852910
ebirs137852910
HLIrs137852910
Exacrs137852910
Varsomers137852910
Maprs137852910
PheGenIrs137852910
hapmaprs137852910
1000 genomesrs137852910
hgdprs137852910
ensemblrs137852910
gopubmedrs137852910
geneviewrs137852910
scholarrs137852910
googlers137852910
pharmgkbrs137852910
gwascentralrs137852910
openSNPrs137852910
23andMers137852910
23andMe allrs137852910
SNP Nexus

SNPshotrs137852910
SNPdbers137852910
MSV3drs137852910
GWAS Ctlgrs137852910
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852910(A;A)
Alt rs137852910(A;A)
Reference rs137852910(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42461008C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003033.2,