Rs104894474

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894474(G;T)
Make rs104894474(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position67726086
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs104894474
Exacrs104894474
PheGenIrs104894474
nextbiors104894474
hapmaprs104894474
1000 genomesrs104894474
hgdprs104894474
ensemblrs104894474
gopubmedrs104894474
geneviewrs104894474
scholarrs104894474
googlers104894474
pharmgkbrs104894474
gwascentralrs104894474
openSNPrs104894474
23andMers104894474
23andMe allrs104894474
SNP Nexus

SNPshotrs104894474
SNPdbers104894474
MSV3drs104894474
OMIM608830
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894474(T;T)
Alt rs104894474(T;T)
Reference rs104894474(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.68192803G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002132.2,