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rs137852460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.5 Hemophilia A (severity varies)
(A;C) 3.5 Carrier of a Hemophilia A mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154896093
GeneF8
is asnp
is mentioned by
dbSNPrs137852460
dbSNP (classic)rs137852460
ClinGenrs137852460
ebirs137852460
HLIrs137852460
Exacrs137852460
Gnomadrs137852460
Varsomers137852460
LitVarrs137852460
Maprs137852460
PheGenIrs137852460
Biobankrs137852460
1000 genomesrs137852460
hgdprs137852460
ensemblrs137852460
geneviewrs137852460
scholarrs137852460
googlers137852460
pharmgkbrs137852460
gwascentralrs137852460
openSNPrs137852460
23andMers137852460
SNPshotrs137852460
SNPdbers137852460
MSV3drs137852460
GWAS Ctlgrs137852460
Max Magnitude5.5
OMIM306700
Desc
Variant0228
Relatedalso
ClinVar
Risk Rs137852460(A;A)
Alt Rs137852460(A;A)
Reference Rs137852460(C;C)
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.154124368G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011024.4,