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rs121918450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918450(C;T)
Make rs121918450(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47307584
GeneITGB3, LOC102724508, RP11-290H9.4
is asnp
is mentioned by
dbSNPrs121918450
ebirs121918450
HLIrs121918450
Exacrs121918450
Varsomers121918450
Maprs121918450
PheGenIrs121918450
hapmaprs121918450
1000 genomesrs121918450
hgdprs121918450
ensemblrs121918450
gopubmedrs121918450
geneviewrs121918450
scholarrs121918450
googlers121918450
pharmgkbrs121918450
gwascentralrs121918450
openSNPrs121918450
23andMers121918450
23andMe allrs121918450
SNP Nexus

SNPshotrs121918450
SNPdbers121918450
MSV3drs121918450
GWAS Ctlgrs121918450
GMAF0.0004591
Max Magnitude0
OMIM173470
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918450(T;T)
Alt rs121918450(T;T)
Reference rs121918450(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3 THCAT158
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45384950C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014532.26,