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rs386834252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834252(-;-)
Make rs386834252(-;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position79489164
GeneLCA5
is asnp
is mentioned by
dbSNPrs386834252
ebirs386834252
HLIrs386834252
Exacrs386834252
Varsomers386834252
Maprs386834252
PheGenIrs386834252
hapmaprs386834252
1000 genomesrs386834252
hgdprs386834252
ensemblrs386834252
gopubmedrs386834252
geneviewrs386834252
scholarrs386834252
googlers386834252
pharmgkbrs386834252
gwascentralrs386834252
openSNPrs386834252
23andMers386834252
23andMe allrs386834252
SNP Nexus

SNPshotrs386834252
SNPdbers386834252
MSV3drs386834252
GWAS Ctlgrs386834252
Max Magnitude0
ClinVar
Risk rs386834252(;)
Alt rs386834252(;)
Reference rs386834252(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 5
Variation info
Gene LCA5
CLNDBN Leber congenital amaurosis 5
Reversed 1
HGVS NC_000006.11:g.80198881delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001017.2,