Have questions? Visit https://www.reddit.com/r/SNPedia

rs199476194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476194(C;T)
Make rs199476194(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186201313
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476194
ebirs199476194
HLIrs199476194
Exacrs199476194
Varsomers199476194
Maprs199476194
PheGenIrs199476194
hapmaprs199476194
1000 genomesrs199476194
hgdprs199476194
ensemblrs199476194
gopubmedrs199476194
geneviewrs199476194
scholarrs199476194
googlers199476194
pharmgkbrs199476194
gwascentralrs199476194
openSNPrs199476194
23andMers199476194
23andMe allrs199476194
SNP Nexus

SNPshotrs199476194
SNPdbers199476194
MSV3drs199476194
GWAS Ctlgrs199476194
Max Magnitude0
ClinVar
Risk rs199476194(T;T)
Alt rs199476194(T;T)
Reference rs199476194(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.187122467C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032549.2,