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

rs137852392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852392(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154993046
GeneF8
is asnp
is mentioned by
dbSNPrs137852392
dbSNP (classic)rs137852392
ClinGenrs137852392
ebirs137852392
HLIrs137852392
Exacrs137852392
Gnomadrs137852392
Varsomers137852392
LitVarrs137852392
Maprs137852392
PheGenIrs137852392
Biobankrs137852392
1000 genomesrs137852392
hgdprs137852392
ensemblrs137852392
geneviewrs137852392
scholarrs137852392
googlers137852392
pharmgkbrs137852392
gwascentralrs137852392
openSNPrs137852392
23andMers137852392
SNPshotrs137852392
SNPdbers137852392
MSV3drs137852392
GWAS Ctlgrs137852392
Merged fromRs28935212
Max Magnitude3.5
OMIM306700
Desc
Variant0092
Relatedalso
ClinVar
Risk rs137852392(T;T)
Alt rs137852392(T;T)
Reference Rs137852392(G;G)
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.154221321C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010888.6,