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rs199476200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476200(A;C)
Make rs199476200(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position186208931
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476200
ebirs199476200
HLIrs199476200
Exacrs199476200
Varsomers199476200
Maprs199476200
PheGenIrs199476200
hapmaprs199476200
1000 genomesrs199476200
hgdprs199476200
ensemblrs199476200
gopubmedrs199476200
geneviewrs199476200
scholarrs199476200
googlers199476200
pharmgkbrs199476200
gwascentralrs199476200
openSNPrs199476200
23andMers199476200
23andMe allrs199476200
SNP Nexus

SNPshotrs199476200
SNPdbers199476200
MSV3drs199476200
GWAS Ctlgrs199476200
Max Magnitude0
ClinVar
Risk rs199476200(C,G;C,G)
Alt rs199476200(C,G;C,G)
Reference rs199476200(A;A)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187130085A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032527.2,