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rs387906462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Hemophilia A (severity varies)
(-;TC) 3.5 Carrier of a Hemophilia A mutation
(TC;TC) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154896093
GeneF8
is asnp
is mentioned by
dbSNPrs387906462
dbSNP (classic)rs387906462
ClinGenrs387906462
ebirs387906462
HLIrs387906462
Exacrs387906462
Gnomadrs387906462
Varsomers387906462
LitVarrs387906462
Maprs387906462
PheGenIrs387906462
Biobankrs387906462
1000 genomesrs387906462
hgdprs387906462
ensemblrs387906462
geneviewrs387906462
scholarrs387906462
googlers387906462
pharmgkbrs387906462
gwascentralrs387906462
openSNPrs387906462
23andMers387906462
SNPshotrs387906462
SNPdbers387906462
MSV3drs387906462
GWAS Ctlgrs387906462
Max Magnitude5.5
ClinVar
Risk Rs387906462(-;-)
Alt Rs387906462(-;-)
Reference Rs387906462(TC;TC)
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.154124368_154124369delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011025.5,