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rs137852391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852391(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154993127
GeneF8
is asnp
is mentioned by
dbSNPrs137852391
dbSNP (classic)rs137852391
ClinGenrs137852391
ebirs137852391
HLIrs137852391
Exacrs137852391
Gnomadrs137852391
Varsomers137852391
LitVarrs137852391
Maprs137852391
PheGenIrs137852391
Biobankrs137852391
1000 genomesrs137852391
hgdprs137852391
ensemblrs137852391
geneviewrs137852391
scholarrs137852391
googlers137852391
pharmgkbrs137852391
gwascentralrs137852391
openSNPrs137852391
23andMers137852391
SNPshotrs137852391
SNPdbers137852391
MSV3drs137852391
GWAS Ctlgrs137852391
Max Magnitude3.5
OMIM306700
Desc
Variant0091
Relatedalso
ClinVar
Risk rs137852391(T;T)
Alt rs137852391(T;T)
Reference Rs137852391(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.154221402G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010887.3,