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rs371525247

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371525247(A;A)
Make rs371525247(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88071373
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs371525247
ebirs371525247
HLIrs371525247
Exacrs371525247
Varsomers371525247
Maprs371525247
PheGenIrs371525247
hapmaprs371525247
1000 genomesrs371525247
hgdprs371525247
ensemblrs371525247
gopubmedrs371525247
geneviewrs371525247
scholarrs371525247
googlers371525247
pharmgkbrs371525247
gwascentralrs371525247
openSNPrs371525247
23andMers371525247
23andMe allrs371525247
SNP Nexus

SNPshotrs371525247
SNPdbers371525247
MSV3drs371525247
GWAS Ctlgrs371525247
Max Magnitude0
ClinVar
Risk rs371525247(A;A)
Alt rs371525247(A;A)
Reference rs371525247(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88465150G>A
CLNSRC
CLNACC RCV000201627.1,