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rs137852357

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
Position154863161
GeneF8
is asnp
is mentioned by
dbSNPrs137852357
dbSNP (classic)rs137852357
ClinGenrs137852357
ebirs137852357
HLIrs137852357
Exacrs137852357
Gnomadrs137852357
Varsomers137852357
LitVarrs137852357
Maprs137852357
PheGenIrs137852357
Biobankrs137852357
1000 genomesrs137852357
hgdprs137852357
ensemblrs137852357
geneviewrs137852357
scholarrs137852357
googlers137852357
pharmgkbrs137852357
gwascentralrs137852357
openSNPrs137852357
23andMers137852357
SNPshotrs137852357
SNPdbers137852357
MSV3drs137852357
GWAS Ctlgrs137852357
Max Magnitude5.5
OMIM306700
Desc
Variant0012
Relatedalso
ClinVar
Risk Rs137852357(T;T)
Alt Rs137852357(T;T)
Reference Rs137852357(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.154091436G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010808.5,