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rs137852425

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 5.5 Hemophilia A (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154953987
GeneF8
is asnp
is mentioned by
dbSNPrs137852425
dbSNP (classic)rs137852425
ClinGenrs137852425
ebirs137852425
HLIrs137852425
Exacrs137852425
Gnomadrs137852425
Varsomers137852425
LitVarrs137852425
Maprs137852425
PheGenIrs137852425
Biobankrs137852425
1000 genomesrs137852425
hgdprs137852425
ensemblrs137852425
geneviewrs137852425
scholarrs137852425
googlers137852425
pharmgkbrs137852425
gwascentralrs137852425
openSNPrs137852425
23andMers137852425
SNPshotrs137852425
SNPdbers137852425
MSV3drs137852425
GWAS Ctlgrs137852425
Merged fromRs28937284
Max Magnitude5.5
OMIM306700
Desc
Variant0150
Relatedalso
ClinVar
Risk Rs137852425(T;T)
Alt Rs137852425(T;T)
Reference Rs137852425(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.154182262C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010946.5,