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rs121918445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918445(G;T)
Make rs121918445(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47284514
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918445
ebirs121918445
HLIrs121918445
Exacrs121918445
Varsomers121918445
Maprs121918445
PheGenIrs121918445
hapmaprs121918445
1000 genomesrs121918445
hgdprs121918445
ensemblrs121918445
gopubmedrs121918445
geneviewrs121918445
scholarrs121918445
googlers121918445
pharmgkbrs121918445
gwascentralrs121918445
openSNPrs121918445
23andMers121918445
23andMe allrs121918445
SNP Nexus

SNPshotrs121918445
SNPdbers121918445
MSV3drs121918445
GWAS Ctlgrs121918445
Max Magnitude0
OMIM173470
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918445(T;T)
Alt rs121918445(T;T)
Reference rs121918445(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45361880G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014513.24,