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rs137852381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852381(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154997086
GeneF8
is asnp
is mentioned by
dbSNPrs137852381
dbSNP (classic)rs137852381
ClinGenrs137852381
ebirs137852381
HLIrs137852381
Exacrs137852381
Gnomadrs137852381
Varsomers137852381
LitVarrs137852381
Maprs137852381
PheGenIrs137852381
Biobankrs137852381
1000 genomesrs137852381
hgdprs137852381
ensemblrs137852381
geneviewrs137852381
scholarrs137852381
googlers137852381
pharmgkbrs137852381
gwascentralrs137852381
openSNPrs137852381
23andMers137852381
SNPshotrs137852381
SNPdbers137852381
MSV3drs137852381
GWAS Ctlgrs137852381
Merged fromRs28935204
Max Magnitude3.5
OMIM306700
Desc
Variant0081
Relatedalso
ClinVar
Risk rs137852381(T;T)
Alt rs137852381(T;T)
Reference Rs137852381(G;G)
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.154225361C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010877.6,