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rs137852406

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia A mutation
Make rs137852406(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969400
GeneF8
is asnp
is mentioned by
dbSNPrs137852406
dbSNP (classic)rs137852406
ClinGenrs137852406
ebirs137852406
HLIrs137852406
Exacrs137852406
Gnomadrs137852406
Varsomers137852406
LitVarrs137852406
Maprs137852406
PheGenIrs137852406
Biobankrs137852406
1000 genomesrs137852406
hgdprs137852406
ensemblrs137852406
geneviewrs137852406
scholarrs137852406
googlers137852406
pharmgkbrs137852406
gwascentralrs137852406
openSNPrs137852406
23andMers137852406
SNPshotrs137852406
SNPdbers137852406
MSV3drs137852406
GWAS Ctlgrs137852406
Merged fromRs28937269
Max Magnitude3.5
OMIM306700
Desc
Variant0114
Relatedalso
ClinVar
Risk rs137852406(G;G)
Alt rs137852406(G;G)
Reference Rs137852406(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.154197675T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010910.3,