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rs137852415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.5 Hemophilia A (severity varies)
(A;G) 3.5 Carrier of a Hemophilia A mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154957079
GeneF8
is asnp
is mentioned by
dbSNPrs137852415
dbSNP (classic)rs137852415
ClinGenrs137852415
ebirs137852415
HLIrs137852415
Exacrs137852415
Gnomadrs137852415
Varsomers137852415
LitVarrs137852415
Maprs137852415
PheGenIrs137852415
Biobankrs137852415
1000 genomesrs137852415
hgdprs137852415
ensemblrs137852415
geneviewrs137852415
scholarrs137852415
googlers137852415
pharmgkbrs137852415
gwascentralrs137852415
openSNPrs137852415
23andMers137852415
SNPshotrs137852415
SNPdbers137852415
MSV3drs137852415
GWAS Ctlgrs137852415
Merged fromRs28937276
Max Magnitude5.5
OMIM306700
Desc
Variant0138
Relatedalso
ClinVar
Risk Rs137852415(A;A)
Alt Rs137852415(A;A)
Reference Rs137852415(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.154185354C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010934.5,