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rs797044761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044761(-;C)
Make rs797044761(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position67725121
GeneGPHN, RDH12
is asnp
is mentioned by
dbSNPrs797044761
dbSNP (old)rs797044761
ClinGenrs797044761
ebirs797044761
HLIrs797044761
Exacrs797044761
Gnomadrs797044761
Varsomers797044761
Maprs797044761
PheGenIrs797044761
Biobankrs797044761
1000 genomesrs797044761
hgdprs797044761
ensemblrs797044761
gopubmedrs797044761
geneviewrs797044761
scholarrs797044761
googlers797044761
pharmgkbrs797044761
gwascentralrs797044761
openSNPrs797044761
23andMers797044761
23andMe allrs797044761
SNP Nexus

SNPshotrs797044761
SNPdbers797044761
MSV3drs797044761
GWAS Ctlgrs797044761
Max Magnitude0
ClinVar
Risk rs797044761(C;C)
Alt rs797044761(C;C)
Reference Rs797044761(-;-)
Significance Pathogenic
Disease not provided Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN not provided Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68191838dupC
CLNSRC
CLNACC RCV000179019.1, RCV000330650.1,