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rs202146713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202146713(C;C)
Make rs202146713(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995233
GeneCLN5
is asnp
is mentioned by
dbSNPrs202146713
ebirs202146713
HLIrs202146713
Exacrs202146713
Varsomers202146713
Maprs202146713
PheGenIrs202146713
hapmaprs202146713
1000 genomesrs202146713
hgdprs202146713
ensemblrs202146713
gopubmedrs202146713
geneviewrs202146713
scholarrs202146713
googlers202146713
pharmgkbrs202146713
gwascentralrs202146713
openSNPrs202146713
23andMers202146713
23andMe allrs202146713
SNP Nexus

SNPshotrs202146713
SNPdbers202146713
MSV3drs202146713
GWAS Ctlgrs202146713
Max Magnitude0
ClinVar
Risk rs202146713(C;C)
Alt rs202146713(C;C)
Reference rs202146713(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77569368G>C
CLNSRC ClinVar
CLNACC RCV000049948.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.