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rs137852390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia A mutation
Make rs137852390(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154993133
GeneF8
is asnp
is mentioned by
dbSNPrs137852390
dbSNP (classic)rs137852390
ClinGenrs137852390
ebirs137852390
HLIrs137852390
Exacrs137852390
Gnomadrs137852390
Varsomers137852390
LitVarrs137852390
Maprs137852390
PheGenIrs137852390
Biobankrs137852390
1000 genomesrs137852390
hgdprs137852390
ensemblrs137852390
geneviewrs137852390
scholarrs137852390
googlers137852390
pharmgkbrs137852390
gwascentralrs137852390
openSNPrs137852390
23andMers137852390
SNPshotrs137852390
SNPdbers137852390
MSV3drs137852390
GWAS Ctlgrs137852390
Merged fromRs28935211
Max Magnitude3.5
OMIM306700
Desc
Variant0090
Relatedalso
ClinVar
Risk rs137852390(G;G)
Alt rs137852390(G;G)
Reference Rs137852390(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.154221408T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010886.5,