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rs121918447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918447(C;C)
Make rs121918447(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47310169
GeneITGB3, LOC102724508, RP11-290H9.4
is asnp
is mentioned by
dbSNPrs121918447
ebirs121918447
HLIrs121918447
Exacrs121918447
Varsomers121918447
Maprs121918447
PheGenIrs121918447
hapmaprs121918447
1000 genomesrs121918447
hgdprs121918447
ensemblrs121918447
gopubmedrs121918447
geneviewrs121918447
scholarrs121918447
googlers121918447
pharmgkbrs121918447
gwascentralrs121918447
openSNPrs121918447
23andMers121918447
23andMe allrs121918447
SNP Nexus

SNPshotrs121918447
SNPdbers121918447
MSV3drs121918447
GWAS Ctlgrs121918447
Max Magnitude0
OMIM173470
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918447(C;C)
Alt rs121918447(C;C)
Reference rs121918447(T;T)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3 THCAT158
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45387535T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014515.19,