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rs137852402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852402(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969444
GeneF8
is asnp
is mentioned by
dbSNPrs137852402
dbSNP (classic)rs137852402
ClinGenrs137852402
ebirs137852402
HLIrs137852402
Exacrs137852402
Gnomadrs137852402
Varsomers137852402
LitVarrs137852402
Maprs137852402
PheGenIrs137852402
Biobankrs137852402
1000 genomesrs137852402
hgdprs137852402
ensemblrs137852402
geneviewrs137852402
scholarrs137852402
googlers137852402
pharmgkbrs137852402
gwascentralrs137852402
openSNPrs137852402
23andMers137852402
SNPshotrs137852402
SNPdbers137852402
MSV3drs137852402
GWAS Ctlgrs137852402
Merged fromRs28935215
Max Magnitude3.5
OMIM306700
Desc
Variant0108
Relatedalso
ClinVar
Risk rs137852402(T;T)
Alt rs137852402(T;T)
Reference Rs137852402(A;A)
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.154197719T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010904.3,