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Rs104894473

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894473(A;A)
Make rs104894473(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position67724556
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs104894473
PheGenIrs104894473
nextbiors104894473
hapmaprs104894473
1000 genomesrs104894473
hgdprs104894473
ensemblrs104894473
gopubmedrs104894473
geneviewrs104894473
scholarrs104894473
googlers104894473
pharmgkbrs104894473
gwascentralrs104894473
openSNPrs104894473
23andMers104894473
23andMe allrs104894473
SNP Nexus

SNPshotrs104894473
SNPdbers104894473
MSV3drs104894473
Max Magnitude0
OMIM608830
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894473(A;A)
Alt rs104894473(A;A)
Reference rs104894473(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 13
Variation info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
HGVS NC_000014.8:g.68191273T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002138.1,