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rs137852908

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
Position44383630
GeneITGA2B
is asnp
is mentioned by
dbSNPrs137852908
ebirs137852908
HLIrs137852908
Exacrs137852908
Varsomers137852908
Maprs137852908
PheGenIrs137852908
hapmaprs137852908
1000 genomesrs137852908
hgdprs137852908
ensemblrs137852908
gopubmedrs137852908
geneviewrs137852908
scholarrs137852908
googlers137852908
pharmgkbrs137852908
gwascentralrs137852908
openSNPrs137852908
23andMers137852908
23andMe allrs137852908
SNP Nexus

SNPshotrs137852908
SNPdbers137852908
MSV3drs137852908
GWAS Ctlgrs137852908
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852908(A;A)
Alt rs137852908(A;A)
Reference rs137852908(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42460998C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003030.1,