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rs28940314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940314(C;T)
Make rs28940314(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position67724550
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs28940314
ebirs28940314
HLIrs28940314
Exacrs28940314
Varsomers28940314
Maprs28940314
PheGenIrs28940314
hapmaprs28940314
1000 genomesrs28940314
hgdprs28940314
ensemblrs28940314
gopubmedrs28940314
geneviewrs28940314
scholarrs28940314
googlers28940314
pharmgkbrs28940314
gwascentralrs28940314
openSNPrs28940314
23andMers28940314
23andMe allrs28940314
SNP Nexus

SNPshotrs28940314
SNPdbers28940314
MSV3drs28940314
GWAS Ctlgrs28940314
Max Magnitude0
OMIM608830
DescLEBER CONGENITAL AMAUROSIS, TYPE III
Variant0004
Relatedalso
Neighborrs28940315
Distance656


ClinVar
Risk rs28940314(A,T;A,T)
Alt rs28940314(A,T;A,T)
Reference rs28940314(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.68191267C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002130.3,