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rs137852407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 0 common in clinvar


Make rs137852407(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969360
GeneF8
is asnp
is mentioned by
dbSNPrs137852407
dbSNP (classic)rs137852407
ClinGenrs137852407
ebirs137852407
HLIrs137852407
Exacrs137852407
Gnomadrs137852407
Varsomers137852407
LitVarrs137852407
Maprs137852407
PheGenIrs137852407
Biobankrs137852407
1000 genomesrs137852407
hgdprs137852407
ensemblrs137852407
geneviewrs137852407
scholarrs137852407
googlers137852407
pharmgkbrs137852407
gwascentralrs137852407
openSNPrs137852407
23andMers137852407
SNPshotrs137852407
SNPdbers137852407
MSV3drs137852407
GWAS Ctlgrs137852407
Merged fromRs28937270
Max Magnitude3.5
OMIM306700
Desc
Variant0116
Relatedalso
ClinVar
Risk rs137852407(C;C)
Alt rs137852407(C;C)
Reference Rs137852407(T;T)
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.154197635A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010912.3,