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

rs199476204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476204(C;T)
Make rs199476204(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186209215
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476204
ebirs199476204
HLIrs199476204
Exacrs199476204
Varsomers199476204
Maprs199476204
PheGenIrs199476204
hapmaprs199476204
1000 genomesrs199476204
hgdprs199476204
ensemblrs199476204
gopubmedrs199476204
geneviewrs199476204
scholarrs199476204
googlers199476204
pharmgkbrs199476204
gwascentralrs199476204
openSNPrs199476204
23andMers199476204
23andMe allrs199476204
SNP Nexus

SNPshotrs199476204
SNPdbers199476204
MSV3drs199476204
GWAS Ctlgrs199476204
Max Magnitude0
ClinVar
Risk rs199476204(T;T)
Alt rs199476204(T;T)
Reference rs199476204(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.187130369C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032533.4,