Rs104894476

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894476(C;G)
Make rs104894476(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position67729220
GeneRDH12, ZFYVE26
is asnp
is mentioned by
dbSNPrs104894476
PheGenIrs104894476
nextbiors104894476
hapmaprs104894476
1000 genomesrs104894476
hgdprs104894476
ensemblrs104894476
gopubmedrs104894476
geneviewrs104894476
scholarrs104894476
googlers104894476
pharmgkbrs104894476
gwascentralrs104894476
openSNPrs104894476
23andMers104894476
23andMe allrs104894476
SNP Nexus

SNPshotrs104894476
SNPdbers104894476
MSV3drs104894476
Max Magnitude0
OMIM608830
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894476(G;G)
Alt rs104894476(G;G)
Reference rs104894476(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.68195937C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002134.1,