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rs386834136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834136(A;A)
Make rs386834136(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780367
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834136
ebirs386834136
HLIrs386834136
Exacrs386834136
Varsomers386834136
Maprs386834136
PheGenIrs386834136
hapmaprs386834136
1000 genomesrs386834136
hgdprs386834136
ensemblrs386834136
gopubmedrs386834136
geneviewrs386834136
scholarrs386834136
googlers386834136
pharmgkbrs386834136
gwascentralrs386834136
openSNPrs386834136
23andMers386834136
23andMe allrs386834136
SNP Nexus

SNPshotrs386834136
SNPdbers386834136
MSV3drs386834136
GWAS Ctlgrs386834136
Max Magnitude0
ClinVar
Risk rs386834136(A;A)
Alt rs386834136(A;A)
Reference rs386834136(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728533G>A
CLNSRC ClinVar
CLNACC RCV000050130.1,


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