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rs386834126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834126(G;G)
Make rs386834126(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771374
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834126
ebirs386834126
HLIrs386834126
Exacrs386834126
Varsomers386834126
Maprs386834126
PheGenIrs386834126
hapmaprs386834126
1000 genomesrs386834126
hgdprs386834126
ensemblrs386834126
gopubmedrs386834126
geneviewrs386834126
scholarrs386834126
googlers386834126
pharmgkbrs386834126
gwascentralrs386834126
openSNPrs386834126
23andMers386834126
23andMe allrs386834126
SNP Nexus

SNPshotrs386834126
SNPdbers386834126
MSV3drs386834126
GWAS Ctlgrs386834126
Max Magnitude0
ClinVar
Risk rs386834126(G;G)
Alt rs386834126(G;G)
Reference rs386834126(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719540T>G
CLNSRC ClinVar
CLNACC RCV000050119.1,


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