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rs199476195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476195(A;T)
Make rs199476195(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186201326
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476195
ebirs199476195
HLIrs199476195
Exacrs199476195
Varsomers199476195
Maprs199476195
PheGenIrs199476195
hapmaprs199476195
1000 genomesrs199476195
hgdprs199476195
ensemblrs199476195
gopubmedrs199476195
geneviewrs199476195
scholarrs199476195
googlers199476195
pharmgkbrs199476195
gwascentralrs199476195
openSNPrs199476195
23andMers199476195
23andMe allrs199476195
SNP Nexus

SNPshotrs199476195
SNPdbers199476195
MSV3drs199476195
GWAS Ctlgrs199476195
Max Magnitude0
ClinVar
Risk rs199476195(T;T)
Alt rs199476195(T;T)
Reference rs199476195(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.187122480A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032550.2,