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rs387906465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Hemophilia A (severity varies)
(-;AG) 3.5 Carrier of a Hemophilia A mutation
(AG;AG) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154860537
GeneF8
is asnp
is mentioned by
dbSNPrs387906465
dbSNP (classic)rs387906465
ClinGenrs387906465
ebirs387906465
HLIrs387906465
Exacrs387906465
Gnomadrs387906465
Varsomers387906465
LitVarrs387906465
Maprs387906465
PheGenIrs387906465
Biobankrs387906465
1000 genomesrs387906465
hgdprs387906465
ensemblrs387906465
geneviewrs387906465
scholarrs387906465
googlers387906465
pharmgkbrs387906465
gwascentralrs387906465
openSNPrs387906465
23andMers387906465
SNPshotrs387906465
SNPdbers387906465
MSV3drs387906465
GWAS Ctlgrs387906465
Max Magnitude5.5
ClinVar
Risk Rs387906465(-;-)
Alt Rs387906465(-;-)
Reference Rs387906465(AG;AG)
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.154088812_154088813delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011042.4,