Rs104894472

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894472(C;C)
Make rs104894472(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position67727055
GeneLOC102723898, RDH12
is asnp
is mentioned by
dbSNPrs104894472
Exacrs104894472
PheGenIrs104894472
nextbiors104894472
hapmaprs104894472
1000 genomesrs104894472
hgdprs104894472
ensemblrs104894472
gopubmedrs104894472
geneviewrs104894472
scholarrs104894472
googlers104894472
pharmgkbrs104894472
gwascentralrs104894472
openSNPrs104894472
23andMers104894472
23andMe allrs104894472
SNP Nexus

SNPshotrs104894472
SNPdbers104894472
MSV3drs104894472
OMIM608830
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894472(C;C)
Alt rs104894472(C;C)
Reference rs104894472(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.68193772T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002137.2,