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rs207482233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCATACAGGTCATCGCT;TCATACAGGTCATCGCT) 0 common in clinvar
Make rs207482233(GC;GC)
Make rs207482233(GC;TCATACAGGTCATCGCT)
ReferenceGRCh38 38.1/141
Chromosome4
Position186201149
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs207482233
dbSNP (old)rs207482233
ClinGenrs207482233
ebirs207482233
HLIrs207482233
Exacrs207482233
Varsomers207482233
Maprs207482233
PheGenIrs207482233
Biobankrs207482233
1000 genomesrs207482233
hgdprs207482233
ensemblrs207482233
gopubmedrs207482233
geneviewrs207482233
scholarrs207482233
googlers207482233
pharmgkbrs207482233
gwascentralrs207482233
openSNPrs207482233
23andMers207482233
23andMe allrs207482233
SNP Nexus

SNPshotrs207482233
SNPdbers207482233
MSV3drs207482233
GWAS Ctlgrs207482233
Max Magnitude0
ClinVar
Risk rs207482233(GC;GC)
Alt rs207482233(GC;GC)
Reference Rs207482233(TCATACAGGTCATCGCT;TCATACAGGTCATCGCT)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy Corneal Dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy Corneal Dystrophy, Recessive
Reversed 0
HGVS NC_000004.11:g.187122303_187122319del17insGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032548.6, RCV000355196.1,