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rs199476197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476197(A;C)
Make rs199476197(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position186205204
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476197
ebirs199476197
HLIrs199476197
Exacrs199476197
Varsomers199476197
Maprs199476197
PheGenIrs199476197
hapmaprs199476197
1000 genomesrs199476197
hgdprs199476197
ensemblrs199476197
gopubmedrs199476197
geneviewrs199476197
scholarrs199476197
googlers199476197
pharmgkbrs199476197
gwascentralrs199476197
openSNPrs199476197
23andMers199476197
23andMe allrs199476197
SNP Nexus

SNPshotrs199476197
SNPdbers199476197
MSV3drs199476197
GWAS Ctlgrs199476197
Max Magnitude0
ClinVar
Risk rs199476197(C;C)
Alt rs199476197(C;C)
Reference rs199476197(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.187126358A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032552.4,