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rs199476185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476185(G;T)
Make rs199476185(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186194522
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476185
ebirs199476185
HLIrs199476185
Exacrs199476185
Varsomers199476185
Maprs199476185
PheGenIrs199476185
hapmaprs199476185
1000 genomesrs199476185
hgdprs199476185
ensemblrs199476185
gopubmedrs199476185
geneviewrs199476185
scholarrs199476185
googlers199476185
pharmgkbrs199476185
gwascentralrs199476185
openSNPrs199476185
23andMers199476185
23andMe allrs199476185
SNP Nexus

SNPshotrs199476185
SNPdbers199476185
MSV3drs199476185
GWAS Ctlgrs199476185
Max Magnitude0
ClinVar
Risk rs199476185(T;T)
Alt rs199476185(T;T)
Reference rs199476185(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.187115676G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032536.2,