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rs137852356

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
Position154896103
GeneF8
is asnp
is mentioned by
dbSNPrs137852356
dbSNP (classic)rs137852356
ClinGenrs137852356
ebirs137852356
HLIrs137852356
Exacrs137852356
Gnomadrs137852356
Varsomers137852356
LitVarrs137852356
Maprs137852356
PheGenIrs137852356
Biobankrs137852356
1000 genomesrs137852356
hgdprs137852356
ensemblrs137852356
geneviewrs137852356
scholarrs137852356
googlers137852356
pharmgkbrs137852356
gwascentralrs137852356
openSNPrs137852356
23andMers137852356
SNPshotrs137852356
SNPdbers137852356
MSV3drs137852356
GWAS Ctlgrs137852356
Max Magnitude5.5
OMIM306700
Desc
Variant0004
Relatedalso
ClinVar
Risk Rs137852356(T;T)
Alt Rs137852356(T;T)
Reference Rs137852356(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.154124378G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010800.3,