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rs199476193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476193(A;G)
Make rs199476193(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186199043
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476193
ebirs199476193
HLIrs199476193
Exacrs199476193
Varsomers199476193
Maprs199476193
PheGenIrs199476193
hapmaprs199476193
1000 genomesrs199476193
hgdprs199476193
ensemblrs199476193
gopubmedrs199476193
geneviewrs199476193
scholarrs199476193
googlers199476193
pharmgkbrs199476193
gwascentralrs199476193
openSNPrs199476193
23andMers199476193
23andMe allrs199476193
SNP Nexus

SNPshotrs199476193
SNPdbers199476193
MSV3drs199476193
GWAS Ctlgrs199476193
Max Magnitude0
ClinVar
Risk rs199476193(G;G)
Alt rs199476193(G;G)
Reference rs199476193(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.187120197A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032547.2,