Rs104894471

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894471(C;T)
Make rs104894471(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position67724588
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs104894471
Exacrs104894471
PheGenIrs104894471
nextbiors104894471
hapmaprs104894471
1000 genomesrs104894471
hgdprs104894471
ensemblrs104894471
gopubmedrs104894471
geneviewrs104894471
scholarrs104894471
googlers104894471
pharmgkbrs104894471
gwascentralrs104894471
openSNPrs104894471
23andMers104894471
23andMe allrs104894471
SNP Nexus

SNPshotrs104894471
SNPdbers104894471
MSV3drs104894471
GMAF0.0009183
Max Magnitude0
OMIM608830
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894471(T;T)
Alt rs104894471(T;T)
Reference rs104894471(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.68191305C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002131.1,