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rs137852443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852443(C;T)
Make rs137852443(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154904999
GeneF8
is asnp
is mentioned by
dbSNPrs137852443
ebirs137852443
HLIrs137852443
Exacrs137852443
Varsomers137852443
Maprs137852443
PheGenIrs137852443
hapmaprs137852443
1000 genomesrs137852443
hgdprs137852443
ensemblrs137852443
gopubmedrs137852443
geneviewrs137852443
scholarrs137852443
googlers137852443
pharmgkbrs137852443
gwascentralrs137852443
openSNPrs137852443
23andMers137852443
23andMe allrs137852443
SNP Nexus

SNPshotrs137852443
SNPdbers137852443
MSV3drs137852443
GWAS Ctlgrs137852443
Merged fromRs28937291
Max Magnitude0
OMIM306700
Desc
Variant0192
Relatedalso
OMIM306700
Desc
Variant0193
Relatedalso
ClinVar
Risk rs137852443(G,T;G,T)
Alt rs137852443(G,T;G,T)
Reference rs137852443(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.154133274G>A; NC_000023.10:g.154133274G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010988.4, RCV000010989.4,