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rs137852361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 5.5 Hemophilia A (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154928677
GeneF8
is asnp
is mentioned by
dbSNPrs137852361
dbSNP (classic)rs137852361
ClinGenrs137852361
ebirs137852361
HLIrs137852361
Exacrs137852361
Gnomadrs137852361
Varsomers137852361
LitVarrs137852361
Maprs137852361
PheGenIrs137852361
Biobankrs137852361
1000 genomesrs137852361
hgdprs137852361
ensemblrs137852361
geneviewrs137852361
scholarrs137852361
googlers137852361
pharmgkbrs137852361
gwascentralrs137852361
openSNPrs137852361
23andMers137852361
SNPshotrs137852361
SNPdbers137852361
MSV3drs137852361
GWAS Ctlgrs137852361
Max Magnitude5.5
OMIM306700
Desc
Variant0028
Relatedalso
ClinVar
Risk Rs137852361(T;T)
Alt Rs137852361(T;T)
Reference Rs137852361(C;C)
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.154156952G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010824.6,