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rs794729650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCCA;TCCA) 0 common in clinvar
Make rs794729650(-;-)
Make rs794729650(-;CATC)
Make rs794729650(CATC;CATC)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position67722705
GeneRDH12
is asnp
is mentioned by
dbSNPrs794729650
ClinGenrs794729650
ebirs794729650
HLIrs794729650
Exacrs794729650
Varsomers794729650
Maprs794729650
PheGenIrs794729650
hapmaprs794729650
1000 genomesrs794729650
hgdprs794729650
ensemblrs794729650
gopubmedrs794729650
geneviewrs794729650
scholarrs794729650
googlers794729650
pharmgkbrs794729650
gwascentralrs794729650
openSNPrs794729650
23andMers794729650
23andMe allrs794729650
SNP Nexus

SNPshotrs794729650
SNPdbers794729650
MSV3drs794729650
GWAS Ctlgrs794729650
Max Magnitude0
ClinVar
Risk rs794729650(-;-)
Alt rs794729650(-;-)
Reference Rs794729650(TCCA;TCCA)
Significance Probable-Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68189422_68189425delCATC
CLNSRC
CLNACC RCV000185560.3,