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rs137852426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5.5 Hemophilia A (severity varies)
(C;G) 3.5 Carrier of a Hemophilia A mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154953983
GeneF8
is asnp
is mentioned by
dbSNPrs137852426
dbSNP (classic)rs137852426
ClinGenrs137852426
ebirs137852426
HLIrs137852426
Exacrs137852426
Gnomadrs137852426
Varsomers137852426
LitVarrs137852426
Maprs137852426
PheGenIrs137852426
Biobankrs137852426
1000 genomesrs137852426
hgdprs137852426
ensemblrs137852426
geneviewrs137852426
scholarrs137852426
googlers137852426
pharmgkbrs137852426
gwascentralrs137852426
openSNPrs137852426
23andMers137852426
SNPshotrs137852426
SNPdbers137852426
MSV3drs137852426
GWAS Ctlgrs137852426
Max Magnitude5.5
OMIM306700
Desc
Variant0151
Relatedalso
ClinVar
Risk Rs137852426(C;C)
Alt Rs137852426(C;C)
Reference Rs137852426(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.154182258C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010947.5,