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rs121918448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918448(C;G)
Make rs121918448(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position47292175
GeneITGB3
is asnp
is mentioned by
dbSNPrs121918448
dbSNP (classic)rs121918448
ClinGenrs121918448
ebirs121918448
HLIrs121918448
Exacrs121918448
Gnomadrs121918448
Varsomers121918448
LitVarrs121918448
Maprs121918448
PheGenIrs121918448
Biobankrs121918448
1000 genomesrs121918448
hgdprs121918448
ensemblrs121918448
geneviewrs121918448
scholarrs121918448
googlers121918448
pharmgkbrs121918448
gwascentralrs121918448
openSNPrs121918448
23andMers121918448
SNPshotrs121918448
SNPdbers121918448
MSV3drs121918448
GWAS Ctlgrs121918448
GMAF0.0004591
Max Magnitude0
OMIM173470
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918448(A;A) rs121918448(G;G) rs121918448(T;T)
Alt rs121918448(A;A) rs121918448(G;G) rs121918448(T;T)
Reference Rs121918448(C;C)
Significance Pathogenic
Disease Mo ALLOANTIGEN POLYMORPHISM Thrombocytopenia
Variation info
Gene ITGB3
CLNDBN Mo ALLOANTIGEN POLYMORPHISM Thrombocytopenia, neonatal alloimmune
Reversed 0
HGVS NC_000017.10:g.45369541C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014525.2, RCV000014526.25,