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rs376493409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376493409(A;A)
Make rs376493409(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88083161
GeneCEP290
is asnp
is mentioned by
dbSNPrs376493409
dbSNP (old)rs376493409
ClinGenrs376493409
ebirs376493409
HLIrs376493409
Exacrs376493409
Gnomadrs376493409
Varsomers376493409
Maprs376493409
PheGenIrs376493409
Biobankrs376493409
1000 genomesrs376493409
hgdprs376493409
ensemblrs376493409
gopubmedrs376493409
geneviewrs376493409
scholarrs376493409
googlers376493409
pharmgkbrs376493409
gwascentralrs376493409
openSNPrs376493409
23andMers376493409
23andMe allrs376493409
SNP Nexus

SNPshotrs376493409
SNPdbers376493409
MSV3drs376493409
GWAS Ctlgrs376493409
Max Magnitude0
ClinVar
Risk rs376493409(A;A)
Alt rs376493409(A;A)
Reference Rs376493409(G;G)
Significance Pathogenic
Disease Joubert syndrome 5 Blindness Global developmental delay not provided
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5 Blindness Global developmental delay not provided
Reversed 0
HGVS NC_000012.11:g.88476938G>A
CLNSRC
CLNACC RCV000201672.1, RCV000414892.1, RCV000493605.1,