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rs199476186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476186(C;T)
Make rs199476186(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186194538
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476186
ebirs199476186
HLIrs199476186
Exacrs199476186
Varsomers199476186
Maprs199476186
PheGenIrs199476186
hapmaprs199476186
1000 genomesrs199476186
hgdprs199476186
ensemblrs199476186
gopubmedrs199476186
geneviewrs199476186
scholarrs199476186
googlers199476186
pharmgkbrs199476186
gwascentralrs199476186
openSNPrs199476186
23andMers199476186
23andMe allrs199476186
SNP Nexus

SNPshotrs199476186
SNPdbers199476186
MSV3drs199476186
GWAS Ctlgrs199476186
Max Magnitude0
ClinVar
Risk rs199476186(T;T)
Alt rs199476186(T;T)
Reference rs199476186(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.187115692C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032537.2,