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rs387906272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906272(A;A)
Make rs387906272(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position67727191
GeneRDH12
is asnp
is mentioned by
dbSNPrs387906272
ebirs387906272
HLIrs387906272
Exacrs387906272
Varsomers387906272
Maprs387906272
PheGenIrs387906272
hapmaprs387906272
1000 genomesrs387906272
hgdprs387906272
ensemblrs387906272
gopubmedrs387906272
geneviewrs387906272
scholarrs387906272
googlers387906272
pharmgkbrs387906272
gwascentralrs387906272
openSNPrs387906272
23andMers387906272
23andMe allrs387906272
SNP Nexus

SNPshotrs387906272
SNPdbers387906272
MSV3drs387906272
GWAS Ctlgrs387906272
Max Magnitude0
ClinVar
Risk rs387906272(A;A)
Alt rs387906272(A;A)
Reference rs387906272(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68193908G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002139.3,