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rs137852419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852419(A;G)
Make rs137852419(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154957049
GeneF8
is asnp
is mentioned by
dbSNPrs137852419
dbSNP (classic)rs137852419
ClinGenrs137852419
ebirs137852419
HLIrs137852419
Exacrs137852419
Gnomadrs137852419
Varsomers137852419
LitVarrs137852419
Maprs137852419
PheGenIrs137852419
Biobankrs137852419
1000 genomesrs137852419
hgdprs137852419
ensemblrs137852419
geneviewrs137852419
scholarrs137852419
googlers137852419
pharmgkbrs137852419
gwascentralrs137852419
openSNPrs137852419
23andMers137852419
SNPshotrs137852419
SNPdbers137852419
MSV3drs137852419
GWAS Ctlgrs137852419
Merged fromRs28937280
Max Magnitude0
OMIM306700
Desc
Variant0143
Relatedalso
ClinVar
Risk rs137852419(G;G)
Alt rs137852419(G;G)
Reference Rs137852419(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.154185324T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010939.4,