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rs137852409

From SNPedia

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


Make rs137852409(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969354
GeneF8
is asnp
is mentioned by
dbSNPrs137852409
dbSNP (classic)rs137852409
ClinGenrs137852409
ebirs137852409
HLIrs137852409
Exacrs137852409
Gnomadrs137852409
Varsomers137852409
LitVarrs137852409
Maprs137852409
PheGenIrs137852409
Biobankrs137852409
1000 genomesrs137852409
hgdprs137852409
ensemblrs137852409
geneviewrs137852409
scholarrs137852409
googlers137852409
pharmgkbrs137852409
gwascentralrs137852409
openSNPrs137852409
23andMers137852409
SNPshotrs137852409
SNPdbers137852409
MSV3drs137852409
GWAS Ctlgrs137852409
Merged fromRs28937271
Max Magnitude3.5
OMIM306700
Desc
Variant0118
Relatedalso
ClinVar
Risk rs137852409(A;A)
Alt rs137852409(A;A)
Reference Rs137852409(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.154197629C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010914.2,