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rs121918165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918165(C;T)
Make rs121918165(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position79493636
GeneLCA5
is asnp
is mentioned by
dbSNPrs121918165
ebirs121918165
HLIrs121918165
Exacrs121918165
Varsomers121918165
Maprs121918165
PheGenIrs121918165
hapmaprs121918165
1000 genomesrs121918165
hgdprs121918165
ensemblrs121918165
gopubmedrs121918165
geneviewrs121918165
scholarrs121918165
googlers121918165
pharmgkbrs121918165
gwascentralrs121918165
openSNPrs121918165
23andMers121918165
23andMe allrs121918165
SNP Nexus

SNPshotrs121918165
SNPdbers121918165
MSV3drs121918165
GWAS Ctlgrs121918165
Max Magnitude0
OMIM611408
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918165(T;T)
Alt rs121918165(T;T)
Reference rs121918165(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 5 Inborn genetic diseases
Variation info
Gene LCA5
CLNDBN Leber congenital amaurosis 5 Inborn genetic diseases
Reversed 1
HGVS NC_000006.11:g.80203353G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001019.2, RCV000190663.1,


[PMID 17546029] Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.