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rs183261547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs183261547(A;A)
Make rs183261547(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome6
Position79491624
GeneLCA5
is asnp
is mentioned by
dbSNPrs183261547
dbSNP (old)rs183261547
ClinGenrs183261547
ebirs183261547
HLIrs183261547
Exacrs183261547
Gnomadrs183261547
Varsomers183261547
Maprs183261547
PheGenIrs183261547
Biobankrs183261547
1000 genomesrs183261547
hgdprs183261547
ensemblrs183261547
gopubmedrs183261547
geneviewrs183261547
scholarrs183261547
googlers183261547
pharmgkbrs183261547
gwascentralrs183261547
openSNPrs183261547
23andMers183261547
23andMe allrs183261547
SNPshotrs183261547
SNPdbers183261547
MSV3drs183261547
GWAS Ctlgrs183261547
Max Magnitude0
ClinVar
Risk rs183261547(A;A) rs183261547(C;C)
Alt rs183261547(A;A) rs183261547(C;C)
Reference Rs183261547(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 5
Variation info
Gene LCA5
CLNDBN Leber congenital amaurosis 5
Reversed 0
HGVS NC_000006.11:g.80201341G>C
CLNSRC
CLNACC RCV000373471.1,