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rs199476198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476198(A;A)
Make rs199476198(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186205232
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476198
ebirs199476198
HLIrs199476198
Exacrs199476198
Varsomers199476198
Maprs199476198
PheGenIrs199476198
hapmaprs199476198
1000 genomesrs199476198
hgdprs199476198
ensemblrs199476198
gopubmedrs199476198
geneviewrs199476198
scholarrs199476198
googlers199476198
pharmgkbrs199476198
gwascentralrs199476198
openSNPrs199476198
23andMers199476198
23andMe allrs199476198
SNP Nexus

SNPshotrs199476198
SNPdbers199476198
MSV3drs199476198
GWAS Ctlgrs199476198
Max Magnitude0
ClinVar
Risk rs199476198(A;A)
Alt rs199476198(A;A)
Reference rs199476198(G;G)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187126386G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032525.2,