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rs137852388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.5 Carrier of a Hemophilia A mutation
Make rs137852388(C;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154993141
GeneF8
is asnp
is mentioned by
dbSNPrs137852388
dbSNP (classic)rs137852388
ClinGenrs137852388
ebirs137852388
HLIrs137852388
Exacrs137852388
Gnomadrs137852388
Varsomers137852388
LitVarrs137852388
Maprs137852388
PheGenIrs137852388
Biobankrs137852388
1000 genomesrs137852388
hgdprs137852388
ensemblrs137852388
geneviewrs137852388
scholarrs137852388
googlers137852388
pharmgkbrs137852388
gwascentralrs137852388
openSNPrs137852388
23andMers137852388
SNPshotrs137852388
SNPdbers137852388
MSV3drs137852388
GWAS Ctlgrs137852388
Merged fromRs28935209
Max Magnitude3.5
OMIM306700
Desc
Variant0088
Relatedalso
ClinVar
Risk rs137852388(C;C)
Alt rs137852388(C;C)
Reference Rs137852388(A;A)
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.154221416T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010884.3,