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rs137852476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia A mutation
Make rs137852476(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position155022449
GeneF8
is asnp
is mentioned by
dbSNPrs137852476
dbSNP (classic)rs137852476
ClinGenrs137852476
ebirs137852476
HLIrs137852476
Exacrs137852476
Gnomadrs137852476
Varsomers137852476
LitVarrs137852476
Maprs137852476
PheGenIrs137852476
Biobankrs137852476
1000 genomesrs137852476
hgdprs137852476
ensemblrs137852476
geneviewrs137852476
scholarrs137852476
googlers137852476
pharmgkbrs137852476
gwascentralrs137852476
openSNPrs137852476
23andMers137852476
SNPshotrs137852476
SNPdbers137852476
MSV3drs137852476
GWAS Ctlgrs137852476
Max Magnitude3.5
OMIM306700
Desc
Variant0269
Relatedalso
ClinVar
Risk rs137852476(G;G)
Alt rs137852476(G;G)
Reference Rs137852476(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.154250724T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011065.5,