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rs137852453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852453(C;T)
Make rs137852453(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154902120
GeneF8
is asnp
is mentioned by
dbSNPrs137852453
dbSNP (classic)rs137852453
ClinGenrs137852453
ebirs137852453
HLIrs137852453
Exacrs137852453
Gnomadrs137852453
Varsomers137852453
LitVarrs137852453
Maprs137852453
PheGenIrs137852453
Biobankrs137852453
1000 genomesrs137852453
hgdprs137852453
ensemblrs137852453
geneviewrs137852453
scholarrs137852453
googlers137852453
pharmgkbrs137852453
gwascentralrs137852453
openSNPrs137852453
23andMers137852453
SNPshotrs137852453
SNPdbers137852453
MSV3drs137852453
GWAS Ctlgrs137852453
Merged fromRs28937298
Max Magnitude0
OMIM306700
Desc
Variant0221
Relatedalso
ClinVar
Risk rs137852453(T;T)
Alt rs137852453(T;T)
Reference Rs137852453(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.154130395G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011017.5,