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rs137852472

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
Position154837697
GeneF8
is asnp
is mentioned by
dbSNPrs137852472
dbSNP (classic)rs137852472
ClinGenrs137852472
ebirs137852472
HLIrs137852472
Exacrs137852472
Gnomadrs137852472
Varsomers137852472
LitVarrs137852472
Maprs137852472
PheGenIrs137852472
Biobankrs137852472
1000 genomesrs137852472
hgdprs137852472
ensemblrs137852472
geneviewrs137852472
scholarrs137852472
googlers137852472
pharmgkbrs137852472
gwascentralrs137852472
openSNPrs137852472
23andMers137852472
SNPshotrs137852472
SNPdbers137852472
MSV3drs137852472
GWAS Ctlgrs137852472
Max Magnitude5.5
OMIM306700
Desc
Variant0249
Relatedalso
ClinVar
Risk Rs137852472(T;T)
Alt Rs137852472(T;T)
Reference Rs137852472(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.154065972G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011045.3,