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rs137852404

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852404(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969417
GeneF8
is asnp
is mentioned by
dbSNPrs137852404
dbSNP (classic)rs137852404
ClinGenrs137852404
ebirs137852404
HLIrs137852404
Exacrs137852404
Gnomadrs137852404
Varsomers137852404
LitVarrs137852404
Maprs137852404
PheGenIrs137852404
Biobankrs137852404
1000 genomesrs137852404
hgdprs137852404
ensemblrs137852404
geneviewrs137852404
scholarrs137852404
googlers137852404
pharmgkbrs137852404
gwascentralrs137852404
openSNPrs137852404
23andMers137852404
SNPshotrs137852404
SNPdbers137852404
MSV3drs137852404
GWAS Ctlgrs137852404
Merged fromRs28937268
Max Magnitude3.5
OMIM306700
Desc
Variant0112
Relatedalso
ClinVar
Risk rs137852404(T;T)
Alt rs137852404(T;T)
Reference Rs137852404(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.154197692G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010908.3,