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rs137852906

From SNPedia

Glanzmann's thrombasthenia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Carrier of a Glanzmann's thromboasthenia allele
(T;T) 3 Glanzmann's thromboasthenia
ReferenceGRCh38 38.1/141
Chromosome17
Position44380004
GeneITGA2B
is asnp
is mentioned by
dbSNPrs137852906
ebirs137852906
HLIrs137852906
Exacrs137852906
Varsomers137852906
Maprs137852906
PheGenIrs137852906
hapmaprs137852906
1000 genomesrs137852906
hgdprs137852906
ensemblrs137852906
gopubmedrs137852906
geneviewrs137852906
scholarrs137852906
googlers137852906
pharmgkbrs137852906
gwascentralrs137852906
openSNPrs137852906
23andMers137852906
23andMe allrs137852906
SNP Nexus

SNPshotrs137852906
SNPdbers137852906
MSV3drs137852906
GWAS Ctlgrs137852906
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852906(T;T)
Alt rs137852906(T;T)
Reference rs137852906(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42457372G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003026.2,