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rs5917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) None
(A;G) None
(G;G) 0 common
ReferenceGRCh38 38.1/141
Chromosome17
Position47284587
GeneITGB3
is asnp
is mentioned by
dbSNPrs5917
dbSNP (classic)rs5917
ClinGenrs5917
ebirs5917
HLIrs5917
Exacrs5917
Gnomadrs5917
Varsomers5917
LitVarrs5917
Maprs5917
PheGenIrs5917
Biobankrs5917
1000 genomesrs5917
hgdprs5917
ensemblrs5917
geneviewrs5917
scholarrs5917
googlers5917
pharmgkbrs5917
gwascentralrs5917
openSNPrs5917
23andMers5917
SNPshotrs5917
SNPdbers5917
MSV3drs5917
GWAS Ctlgrs5917
GMAF0.003673
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM173470
DescPEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
Variant0005
Relatedalso


ClinVar
Risk Rs5917(A;A)
Alt Rs5917(A;A)
Reference Rs5917(G;G)
Significance Pathogenic
Disease PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Thrombocytopenia Posttransfusion purpura
Variation info
Gene ITGB3
CLNDBN PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Thrombocytopenia, neonatal alloimmune Posttransfusion purpura
Reversed 0
HGVS NC_000017.10:g.45361953G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014516.2, RCV000014517.25, RCV000014518.25,