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rs62635288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62635288(G;T)
Make rs62635288(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88141287
GeneCEP290, TMTC3
is asnp
is mentioned by
dbSNPrs62635288
ebirs62635288
HLIrs62635288
Exacrs62635288
Varsomers62635288
Maprs62635288
PheGenIrs62635288
hapmaprs62635288
1000 genomesrs62635288
hgdprs62635288
ensemblrs62635288
gopubmedrs62635288
geneviewrs62635288
scholarrs62635288
googlers62635288
pharmgkbrs62635288
gwascentralrs62635288
openSNPrs62635288
23andMers62635288
23andMe allrs62635288
SNP Nexus

SNPshotrs62635288
SNPdbers62635288
MSV3drs62635288
GWAS Ctlgrs62635288
Max Magnitude0
OMIM610142
Desc
Variant0003
Relatedalso
ClinVar
Risk rs62635288(T;T)
Alt rs62635288(T;T)
Reference rs62635288(G;G)
Significance Pathogenic
Disease Joubert syndrome 5 not provided
Variation info
Gene CEP290 TMTC3
CLNDBN Joubert syndrome 5 not provided
Reversed 1
HGVS NC_000012.11:g.88535064C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001398.3, RCV000086283.1,