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rs1060499578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCCA;TCCA) 0 common in clinvar
Make rs1060499578(-;-)
Make rs1060499578(-;TCCA)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position67722699
GeneGPHN, RDH12
is asnp
is mentioned by
dbSNPrs1060499578
dbSNP (old)rs1060499578
ClinGenrs1060499578
ebirs1060499578
HLIrs1060499578
Exacrs1060499578
Gnomadrs1060499578
Varsomers1060499578
Maprs1060499578
PheGenIrs1060499578
Biobankrs1060499578
1000 genomesrs1060499578
hgdprs1060499578
ensemblrs1060499578
gopubmedrs1060499578
geneviewrs1060499578
scholarrs1060499578
googlers1060499578
pharmgkbrs1060499578
gwascentralrs1060499578
openSNPrs1060499578
23andMers1060499578
23andMe allrs1060499578
SNPshotrs1060499578
SNPdbers1060499578
MSV3drs1060499578
GWAS Ctlgrs1060499578
Max Magnitude0
ClinVar
Risk rs1060499578(-;-)
Alt rs1060499578(-;-)
Reference Rs1060499578(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,