Rs104894472

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894472
PheGenIrs104894472
nextbiors104894472
hapmaprs104894472
1000 genomesrs104894472
hgdprs104894472
ensemblrs104894472
gopubmedrs104894472
geneviewrs104894472
scholarrs104894472
googlers104894472
pharmgkbrs104894472
gwascentralrs104894472
openSNPrs104894472
23andMers104894472
23andMe allrs104894472
SNP Nexus

SNPshotrs104894472
SNPdbers104894472
MSV3drs104894472
GeneLOC102723898, RDH12
Chromosome14
Orientationplus
Position67727055
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894472(C;C)
Make rs104894472(C;T)
OMIM608830
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894472(C;C)
Alt rs104894472(C;C)
Reference rs104894472(T;T)
Significance 5
Disease Leber congenital amaurosis 13
ClinVar info
Gene RDH12
CLNDBN Leber congenital amaurosis 13
Reversed 0
CLNHGVS NC_000014.8:g.68193772T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002137.2