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rs137852455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5.5 Hemophilia A (severity varies)
(C;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154899946
GeneF8
is asnp
is mentioned by
dbSNPrs137852455
dbSNP (classic)rs137852455
ClinGenrs137852455
ebirs137852455
HLIrs137852455
Exacrs137852455
Gnomadrs137852455
Varsomers137852455
LitVarrs137852455
Maprs137852455
PheGenIrs137852455
Biobankrs137852455
1000 genomesrs137852455
hgdprs137852455
ensemblrs137852455
geneviewrs137852455
scholarrs137852455
googlers137852455
pharmgkbrs137852455
gwascentralrs137852455
openSNPrs137852455
23andMers137852455
SNPshotrs137852455
SNPdbers137852455
MSV3drs137852455
GWAS Ctlgrs137852455
Merged fromRs28937299
Max Magnitude5.5
OMIM306700
Desc
Variant0223
Relatedalso
ClinVar
Risk Rs137852455(C;C)
Alt Rs137852455(C;C)
Reference Rs137852455(T;T)
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.154128221A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011019.5,