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rs387906433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AA) 3.5 Carrier of a Hemophilia A mutation
(AA;AA) 0 common in clinvar


Make rs387906433(-;-)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154999544
GeneF8
is asnp
is mentioned by
dbSNPrs387906433
dbSNP (classic)rs387906433
ClinGenrs387906433
ebirs387906433
HLIrs387906433
Exacrs387906433
Gnomadrs387906433
Varsomers387906433
LitVarrs387906433
Maprs387906433
PheGenIrs387906433
Biobankrs387906433
1000 genomesrs387906433
hgdprs387906433
ensemblrs387906433
geneviewrs387906433
scholarrs387906433
googlers387906433
pharmgkbrs387906433
gwascentralrs387906433
openSNPrs387906433
23andMers387906433
SNPshotrs387906433
SNPdbers387906433
MSV3drs387906433
GWAS Ctlgrs387906433
Max Magnitude3.5
ClinVar
Risk rs387906433(-;-)
Alt rs387906433(-;-)
Reference Rs387906433(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.154227819_154227820delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010871.2,