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rs863225187

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225187(A;A)
Make rs863225187(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88055597
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs863225187
ebirs863225187
HLIrs863225187
Exacrs863225187
Varsomers863225187
Maprs863225187
PheGenIrs863225187
hapmaprs863225187
1000 genomesrs863225187
hgdprs863225187
ensemblrs863225187
gopubmedrs863225187
geneviewrs863225187
scholarrs863225187
googlers863225187
pharmgkbrs863225187
gwascentralrs863225187
openSNPrs863225187
23andMers863225187
23andMe allrs863225187
SNP Nexus

SNPshotrs863225187
SNPdbers863225187
MSV3drs863225187
GWAS Ctlgrs863225187
Max Magnitude0
ClinVar
Risk rs863225187(A;A)
Alt rs863225187(A;A)
Reference rs863225187(C;C)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88449374G>T
CLNSRC
CLNACC RCV000201753.1,