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rs370119681

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370119681(A;A)
Make rs370119681(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88080226
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs370119681
ebirs370119681
HLIrs370119681
Exacrs370119681
Varsomers370119681
Maprs370119681
PheGenIrs370119681
hapmaprs370119681
1000 genomesrs370119681
hgdprs370119681
ensemblrs370119681
gopubmedrs370119681
geneviewrs370119681
scholarrs370119681
googlers370119681
pharmgkbrs370119681
gwascentralrs370119681
openSNPrs370119681
23andMers370119681
23andMe allrs370119681
SNP Nexus

SNPshotrs370119681
SNPdbers370119681
MSV3drs370119681
GWAS Ctlgrs370119681
Max Magnitude0
ClinVar
Risk rs370119681(A;A)
Alt rs370119681(A;A)
Reference rs370119681(C;C)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88474003C>A
CLNSRC
CLNACC RCV000177953.1,