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rs104894475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894475(C;G)
Make rs104894475(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position67726983
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs104894475
ebirs104894475
HLIrs104894475
Exacrs104894475
Varsomers104894475
Maprs104894475
PheGenIrs104894475
hapmaprs104894475
1000 genomesrs104894475
hgdprs104894475
ensemblrs104894475
gopubmedrs104894475
geneviewrs104894475
scholarrs104894475
googlers104894475
pharmgkbrs104894475
gwascentralrs104894475
openSNPrs104894475
23andMers104894475
23andMe allrs104894475
SNP Nexus

SNPshotrs104894475
SNPdbers104894475
MSV3drs104894475
GWAS Ctlgrs104894475
Max Magnitude0
OMIM608830
Desc
Variant0007
Relatedalso
OMIM608830
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894475(A,G;A,G)
Alt rs104894475(A,G;A,G)
Reference rs104894475(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.68193700C>A; NC_000014.8:g.68193700C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002133.3, RCV000002135.3,