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rs137852387

From SNPedia

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


Make rs137852387(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154996973
GeneF8
is asnp
is mentioned by
dbSNPrs137852387
dbSNP (classic)rs137852387
ClinGenrs137852387
ebirs137852387
HLIrs137852387
Exacrs137852387
Gnomadrs137852387
Varsomers137852387
LitVarrs137852387
Maprs137852387
PheGenIrs137852387
Biobankrs137852387
1000 genomesrs137852387
hgdprs137852387
ensemblrs137852387
geneviewrs137852387
scholarrs137852387
googlers137852387
pharmgkbrs137852387
gwascentralrs137852387
openSNPrs137852387
23andMers137852387
SNPshotrs137852387
SNPdbers137852387
MSV3drs137852387
GWAS Ctlgrs137852387
Max Magnitude3.5
OMIM306700
Desc
Variant0087
Relatedalso
ClinVar
Risk rs137852387(C;C)
Alt rs137852387(C;C)
Reference Rs137852387(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.154225248C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010883.6,