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rs199476205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476205(C;T)
Make rs199476205(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186210589
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476205
dbSNP (classic)rs199476205
ClinGenrs199476205
ebirs199476205
HLIrs199476205
Exacrs199476205
Gnomadrs199476205
Varsomers199476205
LitVarrs199476205
Maprs199476205
PheGenIrs199476205
Biobankrs199476205
1000 genomesrs199476205
hgdprs199476205
ensemblrs199476205
geneviewrs199476205
scholarrs199476205
googlers199476205
pharmgkbrs199476205
gwascentralrs199476205
openSNPrs199476205
23andMers199476205
SNPshotrs199476205
SNPdbers199476205
MSV3drs199476205
GWAS Ctlgrs199476205
Max Magnitude0
ClinVar
Risk rs199476205(T;T)
Alt rs199476205(T;T)
Reference Rs199476205(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.187131743C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032535.2,