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rs199476183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476183(A;G)
Make rs199476183(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186208863
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476183
dbSNP (classic)rs199476183
ClinGenrs199476183
ebirs199476183
HLIrs199476183
Exacrs199476183
Gnomadrs199476183
Varsomers199476183
LitVarrs199476183
Maprs199476183
PheGenIrs199476183
Biobankrs199476183
1000 genomesrs199476183
hgdprs199476183
ensemblrs199476183
geneviewrs199476183
scholarrs199476183
googlers199476183
pharmgkbrs199476183
gwascentralrs199476183
openSNPrs199476183
23andMers199476183
SNPshotrs199476183
SNPdbers199476183
MSV3drs199476183
GWAS Ctlgrs199476183
Max Magnitude0
ClinVar
Risk rs199476183(G;G)
Alt rs199476183(G;G)
Reference Rs199476183(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.187130017A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002275.6,