Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606738(A;A)
Make rs267606738(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995119
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs267606738
dbSNP (classic)rs267606738
ClinGenrs267606738
ebirs267606738
HLIrs267606738
Exacrs267606738
Gnomadrs267606738
Varsomers267606738
LitVarrs267606738
Maprs267606738
PheGenIrs267606738
Biobankrs267606738
1000 genomesrs267606738
hgdprs267606738
ensemblrs267606738
geneviewrs267606738
scholarrs267606738
googlers267606738
pharmgkbrs267606738
gwascentralrs267606738
openSNPrs267606738
23andMers267606738
SNPshotrs267606738
SNPdbers267606738
MSV3drs267606738
GWAS Ctlgrs267606738
Max Magnitude0
ClinVar
Risk rs267606738(A;A)
Alt rs267606738(A;A)
Reference Rs267606738(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77569254G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002678.3,