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rs199476187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476187(A;A)
Make rs199476187(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186194568
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476187
ebirs199476187
HLIrs199476187
Exacrs199476187
Varsomers199476187
Maprs199476187
PheGenIrs199476187
hapmaprs199476187
1000 genomesrs199476187
hgdprs199476187
ensemblrs199476187
gopubmedrs199476187
geneviewrs199476187
scholarrs199476187
googlers199476187
pharmgkbrs199476187
gwascentralrs199476187
openSNPrs199476187
23andMers199476187
23andMe allrs199476187
SNP Nexus

SNPshotrs199476187
SNPdbers199476187
MSV3drs199476187
GWAS Ctlgrs199476187
Max Magnitude0
ClinVar
Risk rs199476187(A;A)
Alt rs199476187(A;A)
Reference rs199476187(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.187115722G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032538.2,