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rs199476201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476201(A;A)
Make rs199476201(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186208943
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476201
dbSNP (classic)rs199476201
ClinGenrs199476201
ebirs199476201
HLIrs199476201
Exacrs199476201
Gnomadrs199476201
Varsomers199476201
LitVarrs199476201
Maprs199476201
PheGenIrs199476201
Biobankrs199476201
1000 genomesrs199476201
hgdprs199476201
ensemblrs199476201
geneviewrs199476201
scholarrs199476201
googlers199476201
pharmgkbrs199476201
gwascentralrs199476201
openSNPrs199476201
23andMers199476201
SNPshotrs199476201
SNPdbers199476201
MSV3drs199476201
GWAS Ctlgrs199476201
Max Magnitude0
ClinVar
Risk rs199476201(A;A)
Alt rs199476201(A;A)
Reference Rs199476201(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.187130097G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032528.2,