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rs199476203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476203(A;A)
Make rs199476203(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186208973
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476203
dbSNP (classic)rs199476203
ClinGenrs199476203
ebirs199476203
HLIrs199476203
Exacrs199476203
Gnomadrs199476203
Varsomers199476203
LitVarrs199476203
Maprs199476203
PheGenIrs199476203
Biobankrs199476203
1000 genomesrs199476203
hgdprs199476203
ensemblrs199476203
geneviewrs199476203
scholarrs199476203
googlers199476203
pharmgkbrs199476203
gwascentralrs199476203
openSNPrs199476203
23andMers199476203
SNPshotrs199476203
SNPdbers199476203
MSV3drs199476203
GWAS Ctlgrs199476203
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199476203(A;A) rs199476203(T;T)
Alt rs199476203(A;A) rs199476203(T;T)
Reference Rs199476203(G;G)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187130127G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032531.2,