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rs199476192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs199476192(-;AC)
Make rs199476192(AC;AC)
ReferenceGRCh38 38.1/141
Chromosome4
Position186199041
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476192
dbSNP (classic)rs199476192
ClinGenrs199476192
ebirs199476192
HLIrs199476192
Exacrs199476192
Gnomadrs199476192
Varsomers199476192
LitVarrs199476192
Maprs199476192
PheGenIrs199476192
Biobankrs199476192
1000 genomesrs199476192
hgdprs199476192
ensemblrs199476192
geneviewrs199476192
scholarrs199476192
googlers199476192
pharmgkbrs199476192
gwascentralrs199476192
openSNPrs199476192
23andMers199476192
SNPshotrs199476192
SNPdbers199476192
MSV3drs199476192
GWAS Ctlgrs199476192
Max Magnitude0
ClinVar
Risk Rs199476192(A;A)
Alt Rs199476192(A;A)
Reference Rs199476192(-;-)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187120195dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032546.2,