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rs137852441

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
Position154906468
GeneF8
is asnp
is mentioned by
dbSNPrs137852441
dbSNP (classic)rs137852441
ClinGenrs137852441
ebirs137852441
HLIrs137852441
Exacrs137852441
Gnomadrs137852441
Varsomers137852441
LitVarrs137852441
Maprs137852441
PheGenIrs137852441
Biobankrs137852441
1000 genomesrs137852441
hgdprs137852441
ensemblrs137852441
geneviewrs137852441
scholarrs137852441
googlers137852441
pharmgkbrs137852441
gwascentralrs137852441
openSNPrs137852441
23andMers137852441
SNPshotrs137852441
SNPdbers137852441
MSV3drs137852441
GWAS Ctlgrs137852441
Merged fromRs28937288
Max Magnitude5.5
OMIM306700
Desc
Variant0189
Relatedalso
ClinVar
Risk Rs137852441(C;C)
Alt Rs137852441(C;C)
Reference Rs137852441(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.154134743C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010985.3,