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rs386834253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834253(-;-)
Make rs386834253(-;A)
Make rs386834253(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position79487621
GeneLCA5
is asnp
is mentioned by
dbSNPrs386834253
ebirs386834253
HLIrs386834253
Exacrs386834253
Varsomers386834253
Maprs386834253
PheGenIrs386834253
hapmaprs386834253
1000 genomesrs386834253
hgdprs386834253
ensemblrs386834253
gopubmedrs386834253
geneviewrs386834253
scholarrs386834253
googlers386834253
pharmgkbrs386834253
gwascentralrs386834253
openSNPrs386834253
23andMers386834253
23andMe allrs386834253
SNP Nexus

SNPshotrs386834253
SNPdbers386834253
MSV3drs386834253
GWAS Ctlgrs386834253
Max Magnitude0
ClinVar
Risk rs386834253(A;A)
Alt rs386834253(A;A)
Reference Rs386834253(;)
Significance Pathogenic
Disease Leber congenital amaurosis 5
Variation info
Gene LCA5
CLNDBN Leber congenital amaurosis 5
Reversed 1
HGVS NC_000006.11:g.80197339dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001018.2,