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rs387906431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AATG) 3.5 Carrier of a Hemophilia A mutation
(ATGA;ATGA) 0 common in clinvar
(I;I) 0 common genotype
(TGAA;TGAA) 0 common in clinvar
Make rs387906431(-;-)
Make rs387906431(AATG;AATG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966619
GeneF8
is asnp
is mentioned by
dbSNPrs387906431
dbSNP (classic)rs387906431
ClinGenrs387906431
ebirs387906431
HLIrs387906431
Exacrs387906431
Gnomadrs387906431
Varsomers387906431
LitVarrs387906431
Maprs387906431
PheGenIrs387906431
Biobankrs387906431
1000 genomesrs387906431
hgdprs387906431
ensemblrs387906431
geneviewrs387906431
scholarrs387906431
googlers387906431
pharmgkbrs387906431
gwascentralrs387906431
openSNPrs387906431
23andMers387906431
SNPshotrs387906431
SNPdbers387906431
MSV3drs387906431
GWAS Ctlgrs387906431
Max Magnitude3.5
ClinVar
Risk rs387906431(-;-)
Alt rs387906431(-;-)
Reference Rs387906431(TGAA;TGAA)
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.154194894_154194897delCATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010856.3,