Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918446(C;T)
Make rs121918446(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47286363
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918446
ebirs121918446
HLIrs121918446
Exacrs121918446
Varsomers121918446
Maprs121918446
PheGenIrs121918446
hapmaprs121918446
1000 genomesrs121918446
hgdprs121918446
ensemblrs121918446
gopubmedrs121918446
geneviewrs121918446
scholarrs121918446
googlers121918446
pharmgkbrs121918446
gwascentralrs121918446
openSNPrs121918446
23andMers121918446
23andMe allrs121918446
SNP Nexus

SNPshotrs121918446
SNPdbers121918446
MSV3drs121918446
GWAS Ctlgrs121918446
Max Magnitude0
OMIM173470
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918446(T;T)
Alt rs121918446(T;T)
Reference rs121918446(C;C)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45363729C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014514.23,