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

rs137852417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852417(C;T)
Make rs137852417(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154957061
GeneF8
is asnp
is mentioned by
dbSNPrs137852417
ebirs137852417
HLIrs137852417
Exacrs137852417
Varsomers137852417
Maprs137852417
PheGenIrs137852417
hapmaprs137852417
1000 genomesrs137852417
hgdprs137852417
ensemblrs137852417
gopubmedrs137852417
geneviewrs137852417
scholarrs137852417
googlers137852417
pharmgkbrs137852417
gwascentralrs137852417
openSNPrs137852417
23andMers137852417
23andMe allrs137852417
SNP Nexus

SNPshotrs137852417
SNPdbers137852417
MSV3drs137852417
GWAS Ctlgrs137852417
Merged fromRs28937278
Max Magnitude0
OMIM306700
Desc
Variant0140
Relatedalso
OMIM306700
Desc
Variant0141
Relatedalso
ClinVar
Risk rs137852417(G,T;G,T)
Alt rs137852417(G,T;G,T)
Reference rs137852417(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.154185336G>A; NC_000023.10:g.154185336G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010936.3, RCV000010937.4,