Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852401(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969459
GeneF8
is asnp
is mentioned by
dbSNPrs137852401
dbSNP (classic)rs137852401
ClinGenrs137852401
ebirs137852401
HLIrs137852401
Exacrs137852401
Gnomadrs137852401
Varsomers137852401
LitVarrs137852401
Maprs137852401
PheGenIrs137852401
Biobankrs137852401
1000 genomesrs137852401
hgdprs137852401
ensemblrs137852401
geneviewrs137852401
scholarrs137852401
googlers137852401
pharmgkbrs137852401
gwascentralrs137852401
openSNPrs137852401
23andMers137852401
SNPshotrs137852401
SNPdbers137852401
MSV3drs137852401
GWAS Ctlgrs137852401
Merged fromRs28935214
Max Magnitude3.5
OMIM306700
Desc
Variant0107
Relatedalso
ClinVar
Risk rs137852401(T;T)
Alt rs137852401(T;T)
Reference Rs137852401(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.154197734G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010903.4,