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

rs137852397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852397(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154987237
GeneF8
is asnp
is mentioned by
dbSNPrs137852397
dbSNP (classic)rs137852397
ClinGenrs137852397
ebirs137852397
HLIrs137852397
Exacrs137852397
Gnomadrs137852397
Varsomers137852397
LitVarrs137852397
Maprs137852397
PheGenIrs137852397
Biobankrs137852397
1000 genomesrs137852397
hgdprs137852397
ensemblrs137852397
geneviewrs137852397
scholarrs137852397
googlers137852397
pharmgkbrs137852397
gwascentralrs137852397
openSNPrs137852397
23andMers137852397
SNPshotrs137852397
SNPdbers137852397
MSV3drs137852397
GWAS Ctlgrs137852397
Max Magnitude3.5
OMIM306700
Desc
Variant0097
Relatedalso
ClinVar
Risk rs137852397(T;T)
Alt rs137852397(T;T)
Reference Rs137852397(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.154215512C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010893.3,