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rs199476184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGACAGCAGGTTACAG;TGACAGCAGGTTACAG) 0 common in clinvar
Make rs199476184(-;-)
Make rs199476184(-;TGACAGCAGGTTACAG)
ReferenceGRCh38 38.1/141
Chromosome4
Position186209087
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs199476184
ebirs199476184
HLIrs199476184
Exacrs199476184
Varsomers199476184
Maprs199476184
PheGenIrs199476184
hapmaprs199476184
1000 genomesrs199476184
hgdprs199476184
ensemblrs199476184
gopubmedrs199476184
geneviewrs199476184
scholarrs199476184
googlers199476184
pharmgkbrs199476184
gwascentralrs199476184
openSNPrs199476184
23andMers199476184
23andMe allrs199476184
SNP Nexus

SNPshotrs199476184
SNPdbers199476184
MSV3drs199476184
GWAS Ctlgrs199476184
Max Magnitude0
ClinVar
Risk rs199476184(;)
Alt rs199476184(;)
Reference rs199476184(TGACAGCAGGTTACAG;TGACAGCAGGTTACAG)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187130241_187130256del16
CLNSRC ClinVar GeneReviews
CLNACC RCV000032532.2,