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rs28940315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940315(A;A)
Make rs28940315(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position67725206
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs28940315
ebirs28940315
HLIrs28940315
Exacrs28940315
Varsomers28940315
Maprs28940315
PheGenIrs28940315
hapmaprs28940315
1000 genomesrs28940315
hgdprs28940315
ensemblrs28940315
gopubmedrs28940315
geneviewrs28940315
scholarrs28940315
googlers28940315
pharmgkbrs28940315
gwascentralrs28940315
openSNPrs28940315
23andMers28940315
23andMe allrs28940315
SNP Nexus

SNPshotrs28940315
SNPdbers28940315
MSV3drs28940315
GWAS Ctlgrs28940315
GMAF0.0009183
Max Magnitude0
OMIM608830
DescLEBER CONGENITAL AMAUROSIS, TYPE III
Variant0010
Relatedalso
Neighborrs28940314
Distance656


ClinVar
Risk rs28940315(A;A)
Alt rs28940315(A;A)
Reference rs28940315(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68191923C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002136.4,