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rs878853382

From SNPedia

Orientationminus
Geno Mag Summary
(AGCTAGA;AGCTAGA) 0 common in clinvar
Make rs878853382(-;-)
Make rs878853382(-;AGCTAGA)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position79513293
GeneLCA5
is asnp
is mentioned by
dbSNPrs878853382
ebirs878853382
HLIrs878853382
Exacrs878853382
Varsomers878853382
Maprs878853382
PheGenIrs878853382
hapmaprs878853382
1000 genomesrs878853382
hgdprs878853382
ensemblrs878853382
gopubmedrs878853382
geneviewrs878853382
scholarrs878853382
googlers878853382
pharmgkbrs878853382
gwascentralrs878853382
openSNPrs878853382
23andMers878853382
23andMe allrs878853382
SNP Nexus

SNPshotrs878853382
SNPdbers878853382
MSV3drs878853382
GWAS Ctlgrs878853382
Max Magnitude0
ClinVar
Risk rs878853382(;)
Alt rs878853382(;)
Reference rs878853382(AGCTAGA;AGCTAGA)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene LCA5
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000006.11:g.80223010_80223016delTCTAGCT
CLNSRC
CLNACC RCV000225651.1,