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rs199476196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476196(C;T)
Make rs199476196(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186201329
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476196
ebirs199476196
HLIrs199476196
Exacrs199476196
Varsomers199476196
Maprs199476196
PheGenIrs199476196
hapmaprs199476196
1000 genomesrs199476196
hgdprs199476196
ensemblrs199476196
gopubmedrs199476196
geneviewrs199476196
scholarrs199476196
googlers199476196
pharmgkbrs199476196
gwascentralrs199476196
openSNPrs199476196
23andMers199476196
23andMe allrs199476196
SNP Nexus

SNPshotrs199476196
SNPdbers199476196
MSV3drs199476196
GWAS Ctlgrs199476196
Max Magnitude0
ClinVar
Risk rs199476196(T;T)
Alt rs199476196(T;T)
Reference rs199476196(C;C)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187122483C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032551.2,