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rs121918451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918451(G;T)
Make rs121918451(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position47300488
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918451
ebirs121918451
HLIrs121918451
Exacrs121918451
Varsomers121918451
Maprs121918451
PheGenIrs121918451
hapmaprs121918451
1000 genomesrs121918451
hgdprs121918451
ensemblrs121918451
gopubmedrs121918451
geneviewrs121918451
scholarrs121918451
googlers121918451
pharmgkbrs121918451
gwascentralrs121918451
openSNPrs121918451
23andMers121918451
23andMe allrs121918451
SNP Nexus

SNPshotrs121918451
SNPdbers121918451
MSV3drs121918451
GWAS Ctlgrs121918451
Max Magnitude0
OMIM173470
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918451(T;T)
Alt rs121918451(T;T)
Reference rs121918451(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45377854G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014533.26,