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rs137852371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852371(C;C)
Make rs137852371(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966664
GeneF8
is asnp
is mentioned by
dbSNPrs137852371
dbSNP (classic)rs137852371
ClinGenrs137852371
ebirs137852371
HLIrs137852371
Exacrs137852371
Gnomadrs137852371
Varsomers137852371
LitVarrs137852371
Maprs137852371
PheGenIrs137852371
Biobankrs137852371
1000 genomesrs137852371
hgdprs137852371
ensemblrs137852371
geneviewrs137852371
scholarrs137852371
googlers137852371
pharmgkbrs137852371
gwascentralrs137852371
openSNPrs137852371
23andMers137852371
SNPshotrs137852371
SNPdbers137852371
MSV3drs137852371
GWAS Ctlgrs137852371
Max Magnitude3.5
OMIM306700
Desc
Variant0059
Relatedalso
ClinVar
Risk rs137852371(C;C) rs137852371(T;T)
Alt rs137852371(C;C) rs137852371(T;T)
Reference Rs137852371(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.154194939C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010855.5,