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rs121918449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918449(A;A)
Make rs121918449(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47291027
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918449
ebirs121918449
HLIrs121918449
Exacrs121918449
Varsomers121918449
Maprs121918449
PheGenIrs121918449
hapmaprs121918449
1000 genomesrs121918449
hgdprs121918449
ensemblrs121918449
gopubmedrs121918449
geneviewrs121918449
scholarrs121918449
googlers121918449
pharmgkbrs121918449
gwascentralrs121918449
openSNPrs121918449
23andMers121918449
23andMe allrs121918449
SNP Nexus

SNPshotrs121918449
SNPdbers121918449
MSV3drs121918449
GWAS Ctlgrs121918449
Max Magnitude0
OMIM173470
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918449(A;A)
Alt rs121918449(A;A)
Reference rs121918449(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45368393G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014530.26,