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rs137852384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.5 Carrier of a Hemophilia A mutation
Make rs137852384(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154997038
GeneF8
is asnp
is mentioned by
dbSNPrs137852384
dbSNP (classic)rs137852384
ClinGenrs137852384
ebirs137852384
HLIrs137852384
Exacrs137852384
Gnomadrs137852384
Varsomers137852384
LitVarrs137852384
Maprs137852384
PheGenIrs137852384
Biobankrs137852384
1000 genomesrs137852384
hgdprs137852384
ensemblrs137852384
geneviewrs137852384
scholarrs137852384
googlers137852384
pharmgkbrs137852384
gwascentralrs137852384
openSNPrs137852384
23andMers137852384
SNPshotrs137852384
SNPdbers137852384
MSV3drs137852384
GWAS Ctlgrs137852384
Merged fromRs28935207
Max Magnitude3.5
OMIM306700
Desc
Variant0084
Relatedalso
ClinVar
Risk rs137852384(C;C)
Alt rs137852384(C;C)
Reference Rs137852384(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.154225313T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010880.2,