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rs121918444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918444(A;A)
Make rs121918444(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47286364
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918444
ebirs121918444
HLIrs121918444
Exacrs121918444
Varsomers121918444
Maprs121918444
PheGenIrs121918444
hapmaprs121918444
1000 genomesrs121918444
hgdprs121918444
ensemblrs121918444
gopubmedrs121918444
geneviewrs121918444
scholarrs121918444
googlers121918444
pharmgkbrs121918444
gwascentralrs121918444
openSNPrs121918444
23andMers121918444
23andMe allrs121918444
SNP Nexus

SNPshotrs121918444
SNPdbers121918444
MSV3drs121918444
GWAS Ctlgrs121918444
Max Magnitude0
OMIM173470
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918444(A;A)
Alt rs121918444(A;A)
Reference rs121918444(G;G)
Significance Pathogenic
Disease Glanzmann's thrombasthenia
Variation info
Gene ITGB3
CLNDBN Glanzmann's thrombasthenia
Reversed 0
HGVS NC_000017.10:g.45363730G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014512.25,