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rs199476188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476188(G;G)
Make rs199476188(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186196010
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476188
dbSNP (classic)rs199476188
ClinGenrs199476188
ebirs199476188
HLIrs199476188
Exacrs199476188
Gnomadrs199476188
Varsomers199476188
LitVarrs199476188
Maprs199476188
PheGenIrs199476188
Biobankrs199476188
1000 genomesrs199476188
hgdprs199476188
ensemblrs199476188
geneviewrs199476188
scholarrs199476188
googlers199476188
pharmgkbrs199476188
gwascentralrs199476188
openSNPrs199476188
23andMers199476188
SNPshotrs199476188
SNPdbers199476188
MSV3drs199476188
GWAS Ctlgrs199476188
Max Magnitude0
ClinVar
Risk rs199476188(G;G)
Alt rs199476188(G;G)
Reference Rs199476188(T;T)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187117164T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032540.2,