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rs2228152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2228152(A;G)
Make rs2228152(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154931407
GeneF8
is asnp
is mentioned by
dbSNPrs2228152
ebirs2228152
HLIrs2228152
Exacrs2228152
Varsomers2228152
Maprs2228152
PheGenIrs2228152
hapmaprs2228152
1000 genomesrs2228152
hgdprs2228152
ensemblrs2228152
gopubmedrs2228152
geneviewrs2228152
scholarrs2228152
googlers2228152
pharmgkbrs2228152
gwascentralrs2228152
openSNPrs2228152
23andMers2228152
23andMe allrs2228152
SNP Nexus

SNPshotrs2228152
SNPdbers2228152
MSV3drs2228152
GWAS Ctlgrs2228152
GMAF0.002418
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs2228152(G,T;G,T)
Alt rs2228152(G,T;G,T)
Reference rs2228152(A;A)
Significance Pathogenic
Disease Hereditary factor VIII deficiency disease
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease
Reversed 1
HGVS NC_000023.10:g.154159682T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010961.3,


[PMID 17209060OA-icon.png] A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.