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rs137852907

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
Position44384567
GeneITGA2B
is asnp
is mentioned by
dbSNPrs137852907
ebirs137852907
HLIrs137852907
Exacrs137852907
Varsomers137852907
Maprs137852907
PheGenIrs137852907
hapmaprs137852907
1000 genomesrs137852907
hgdprs137852907
ensemblrs137852907
gopubmedrs137852907
geneviewrs137852907
scholarrs137852907
googlers137852907
pharmgkbrs137852907
gwascentralrs137852907
openSNPrs137852907
23andMers137852907
23andMe allrs137852907
SNP Nexus

SNPshotrs137852907
SNPdbers137852907
MSV3drs137852907
GWAS Ctlgrs137852907
Max Magnitude3

Glanzmann's thrombasthenia

OMIM607759
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852907(A;A)
Alt rs137852907(A;A)
Reference rs137852907(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGA2B
CLNDBN Glanzmann's thrombasthenia
Reversed 1
HGVS NC_000017.10:g.42461935C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003028.2,