Rs104894470

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894470(C;T)
Make rs104894470(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position67727097
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs104894470
Exacrs104894470
PheGenIrs104894470
nextbiors104894470
hapmaprs104894470
1000 genomesrs104894470
hgdprs104894470
ensemblrs104894470
gopubmedrs104894470
geneviewrs104894470
scholarrs104894470
googlers104894470
pharmgkbrs104894470
gwascentralrs104894470
openSNPrs104894470
23andMers104894470
23andMe allrs104894470
SNP Nexus

SNPshotrs104894470
SNPdbers104894470
MSV3drs104894470
OMIM608830
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894470(T;T)
Alt rs104894470(T;T)
Reference rs104894470(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.68193814C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002129.1,