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rs137852463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 5.5 Hemophilia A (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154863139
GeneF8
is asnp
is mentioned by
dbSNPrs137852463
dbSNP (classic)rs137852463
ClinGenrs137852463
ebirs137852463
HLIrs137852463
Exacrs137852463
Gnomadrs137852463
Varsomers137852463
LitVarrs137852463
Maprs137852463
PheGenIrs137852463
Biobankrs137852463
1000 genomesrs137852463
hgdprs137852463
ensemblrs137852463
geneviewrs137852463
scholarrs137852463
googlers137852463
pharmgkbrs137852463
gwascentralrs137852463
openSNPrs137852463
23andMers137852463
SNPshotrs137852463
SNPdbers137852463
MSV3drs137852463
GWAS Ctlgrs137852463
Max Magnitude5.5
OMIM306700
Desc
Variant0233
Relatedalso
ClinVar
Risk Rs137852463(T;T)
Alt Rs137852463(T;T)
Reference Rs137852463(C;C)
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.154091414G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011030.4,