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rs199476189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476189(G;T)
Make rs199476189(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186196075
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476189
ebirs199476189
HLIrs199476189
Exacrs199476189
Varsomers199476189
Maprs199476189
PheGenIrs199476189
hapmaprs199476189
1000 genomesrs199476189
hgdprs199476189
ensemblrs199476189
gopubmedrs199476189
geneviewrs199476189
scholarrs199476189
googlers199476189
pharmgkbrs199476189
gwascentralrs199476189
openSNPrs199476189
23andMers199476189
23andMe allrs199476189
SNP Nexus

SNPshotrs199476189
SNPdbers199476189
MSV3drs199476189
GWAS Ctlgrs199476189
Max Magnitude0
ClinVar
Risk rs199476189(T;T)
Alt rs199476189(T;T)
Reference rs199476189(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.187117229G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032542.2,