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rs387906452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Hemophilia A (severity varies)
(-;TAGA) 3.5 Carrier of a Hemophilia A mutation
(TAGA;TAGA) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154929666
GeneF8
is asnp
is mentioned by
dbSNPrs387906452
dbSNP (classic)rs387906452
ClinGenrs387906452
ebirs387906452
HLIrs387906452
Exacrs387906452
Gnomadrs387906452
Varsomers387906452
LitVarrs387906452
Maprs387906452
PheGenIrs387906452
Biobankrs387906452
1000 genomesrs387906452
hgdprs387906452
ensemblrs387906452
geneviewrs387906452
scholarrs387906452
googlers387906452
pharmgkbrs387906452
gwascentralrs387906452
openSNPrs387906452
23andMers387906452
SNPshotrs387906452
SNPdbers387906452
MSV3drs387906452
GWAS Ctlgrs387906452
Max Magnitude5.5
ClinVar
Risk Rs387906452(-;-)
Alt Rs387906452(-;-)
Reference Rs387906452(TAGA;TAGA)
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.154157941_154157944delTCTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010969.4,