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rs28940313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940313(A;G)
Make rs28940313(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position67729209
GeneRDH12, ZFYVE26
is asnp
is mentioned by
dbSNPrs28940313
ebirs28940313
HLIrs28940313
Exacrs28940313
Varsomers28940313
Maprs28940313
PheGenIrs28940313
hapmaprs28940313
1000 genomesrs28940313
hgdprs28940313
ensemblrs28940313
gopubmedrs28940313
geneviewrs28940313
scholarrs28940313
googlers28940313
pharmgkbrs28940313
gwascentralrs28940313
openSNPrs28940313
23andMers28940313
23andMe allrs28940313
SNP Nexus

SNPshotrs28940313
SNPdbers28940313
MSV3drs28940313
GWAS Ctlgrs28940313
Max Magnitude0
OMIM608830
DescLEBER CONGENITAL AMAUROSIS, TYPE III
Variant0001
Relatedalso
ClinVar
Risk rs28940313(G;G)
Alt rs28940313(G;G)
Reference rs28940313(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68195926A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002127.3,