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rs199476202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476202(C;T)
Make rs199476202(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186208961
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476202
ebirs199476202
HLIrs199476202
Exacrs199476202
Varsomers199476202
Maprs199476202
PheGenIrs199476202
hapmaprs199476202
1000 genomesrs199476202
hgdprs199476202
ensemblrs199476202
gopubmedrs199476202
geneviewrs199476202
scholarrs199476202
googlers199476202
pharmgkbrs199476202
gwascentralrs199476202
openSNPrs199476202
23andMers199476202
23andMe allrs199476202
SNP Nexus

SNPshotrs199476202
SNPdbers199476202
MSV3drs199476202
GWAS Ctlgrs199476202
Max Magnitude0
ClinVar
Risk rs199476202(T;T)
Alt rs199476202(T;T)
Reference rs199476202(C;C)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187130115C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032529.2,