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rs748034744

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs748034744(A;G)
Make rs748034744(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88111226
GeneCEP290
is asnp
is mentioned by
dbSNPrs748034744
ebirs748034744
HLIrs748034744
Exacrs748034744
Varsomers748034744
Maprs748034744
PheGenIrs748034744
hapmaprs748034744
1000 genomesrs748034744
hgdprs748034744
ensemblrs748034744
gopubmedrs748034744
geneviewrs748034744
scholarrs748034744
googlers748034744
pharmgkbrs748034744
gwascentralrs748034744
openSNPrs748034744
23andMers748034744
23andMe allrs748034744
SNP Nexus

SNPshotrs748034744
SNPdbers748034744
MSV3drs748034744
GWAS Ctlgrs748034744
Max Magnitude0
ClinVar
Risk rs748034744(G;G)
Alt rs748034744(G;G)
Reference rs748034744(A;A)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88505003A>G
CLNSRC
CLNACC RCV000201605.1,