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rs387906463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Hemophilia A (severity varies)
(-;AA) 3.5 Carrier of a Hemophilia A mutation
(AA;AA) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154863192
GeneF8
is asnp
is mentioned by
dbSNPrs387906463
dbSNP (classic)rs387906463
ClinGenrs387906463
ebirs387906463
HLIrs387906463
Exacrs387906463
Gnomadrs387906463
Varsomers387906463
LitVarrs387906463
Maprs387906463
PheGenIrs387906463
Biobankrs387906463
1000 genomesrs387906463
hgdprs387906463
ensemblrs387906463
geneviewrs387906463
scholarrs387906463
googlers387906463
pharmgkbrs387906463
gwascentralrs387906463
openSNPrs387906463
23andMers387906463
SNPshotrs387906463
SNPdbers387906463
MSV3drs387906463
GWAS Ctlgrs387906463
Max Magnitude5.5
ClinVar
Risk Rs387906463(-;-)
Alt Rs387906463(-;-)
Reference Rs387906463(AA;AA)
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.154091467_154091468delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011026.2,