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rs121918452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918452(G;G)
Make rs121918452(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47284509
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918452
ebirs121918452
HLIrs121918452
Exacrs121918452
Varsomers121918452
Maprs121918452
PheGenIrs121918452
hapmaprs121918452
1000 genomesrs121918452
hgdprs121918452
ensemblrs121918452
gopubmedrs121918452
geneviewrs121918452
scholarrs121918452
googlers121918452
pharmgkbrs121918452
gwascentralrs121918452
openSNPrs121918452
23andMers121918452
23andMe allrs121918452
SNP Nexus

SNPshotrs121918452
SNPdbers121918452
MSV3drs121918452
GWAS Ctlgrs121918452
Max Magnitude0
OMIM173470
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918452(G;G)
Alt rs121918452(G;G)
Reference rs121918452(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45361875T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014535.21,