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rs199476199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476199(C;C)
Make rs199476199(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186205233
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476199
ebirs199476199
HLIrs199476199
Exacrs199476199
Varsomers199476199
Maprs199476199
PheGenIrs199476199
hapmaprs199476199
1000 genomesrs199476199
hgdprs199476199
ensemblrs199476199
gopubmedrs199476199
geneviewrs199476199
scholarrs199476199
googlers199476199
pharmgkbrs199476199
gwascentralrs199476199
openSNPrs199476199
23andMers199476199
23andMe allrs199476199
SNP Nexus

SNPshotrs199476199
SNPdbers199476199
MSV3drs199476199
GWAS Ctlgrs199476199
Max Magnitude0
ClinVar
Risk rs199476199(C;C)
Alt rs199476199(C;C)
Reference rs199476199(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.187126387T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032526.2,