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rs137852359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia A mutation
Make rs137852359(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969468
GeneF8
is asnp
is mentioned by
dbSNPrs137852359
dbSNP (classic)rs137852359
ClinGenrs137852359
ebirs137852359
HLIrs137852359
Exacrs137852359
Gnomadrs137852359
Varsomers137852359
LitVarrs137852359
Maprs137852359
PheGenIrs137852359
Biobankrs137852359
1000 genomesrs137852359
hgdprs137852359
ensemblrs137852359
geneviewrs137852359
scholarrs137852359
googlers137852359
pharmgkbrs137852359
gwascentralrs137852359
openSNPrs137852359
23andMers137852359
SNPshotrs137852359
SNPdbers137852359
MSV3drs137852359
GWAS Ctlgrs137852359
Max Magnitude3.5
OMIM306700
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852359(G;G)
Alt rs137852359(G;G)
Reference Rs137852359(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.154197743T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010811.3,