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

rs199476191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476191(C;C)
Make rs199476191(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186197583
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476191
dbSNP (old)rs199476191
ClinGenrs199476191
ebirs199476191
HLIrs199476191
Exacrs199476191
Gnomadrs199476191
Varsomers199476191
Maprs199476191
PheGenIrs199476191
Biobankrs199476191
1000 genomesrs199476191
hgdprs199476191
ensemblrs199476191
gopubmedrs199476191
geneviewrs199476191
scholarrs199476191
googlers199476191
pharmgkbrs199476191
gwascentralrs199476191
openSNPrs199476191
23andMers199476191
23andMe allrs199476191
SNP Nexus

SNPshotrs199476191
SNPdbers199476191
MSV3drs199476191
GWAS Ctlgrs199476191
Max Magnitude0
ClinVar
Risk rs199476191(C;C)
Alt rs199476191(C;C)
Reference Rs199476191(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.187118737T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032545.2,