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rs137852385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia A mutation
Make rs137852385(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154997033
GeneF8
is asnp
is mentioned by
dbSNPrs137852385
dbSNP (classic)rs137852385
ClinGenrs137852385
ebirs137852385
HLIrs137852385
Exacrs137852385
Gnomadrs137852385
Varsomers137852385
LitVarrs137852385
Maprs137852385
PheGenIrs137852385
Biobankrs137852385
1000 genomesrs137852385
hgdprs137852385
ensemblrs137852385
geneviewrs137852385
scholarrs137852385
googlers137852385
pharmgkbrs137852385
gwascentralrs137852385
openSNPrs137852385
23andMers137852385
SNPshotrs137852385
SNPdbers137852385
MSV3drs137852385
GWAS Ctlgrs137852385
Merged fromRs28936083
Max Magnitude3.5
OMIM306700
Desc
Variant0085
Relatedalso
ClinVar
Risk rs137852385(G;G)
Alt rs137852385(G;G)
Reference Rs137852385(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.154225308T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010881.7,