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rs199476190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476190(G;G)
Make rs199476190(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186197044
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476190
dbSNP (classic)rs199476190
ClinGenrs199476190
ebirs199476190
HLIrs199476190
Exacrs199476190
Gnomadrs199476190
Varsomers199476190
LitVarrs199476190
Maprs199476190
PheGenIrs199476190
Biobankrs199476190
1000 genomesrs199476190
hgdprs199476190
ensemblrs199476190
geneviewrs199476190
scholarrs199476190
googlers199476190
pharmgkbrs199476190
gwascentralrs199476190
openSNPrs199476190
23andMers199476190
SNPshotrs199476190
SNPdbers199476190
MSV3drs199476190
GWAS Ctlgrs199476190
Max Magnitude0
ClinVar
Risk rs199476190(G;G)
Alt rs199476190(G;G)
Reference Rs199476190(T;T)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187118198T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032543.2,