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rs386834130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834130(A;G)
Make rs386834130(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771527
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834130
ebirs386834130
HLIrs386834130
Exacrs386834130
Varsomers386834130
Maprs386834130
PheGenIrs386834130
hapmaprs386834130
1000 genomesrs386834130
hgdprs386834130
ensemblrs386834130
gopubmedrs386834130
geneviewrs386834130
scholarrs386834130
googlers386834130
pharmgkbrs386834130
gwascentralrs386834130
openSNPrs386834130
23andMers386834130
23andMe allrs386834130
SNP Nexus

SNPshotrs386834130
SNPdbers386834130
MSV3drs386834130
GWAS Ctlgrs386834130
Max Magnitude0
ClinVar
Risk rs386834130(G;G)
Alt rs386834130(G;G)
Reference rs386834130(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719693A>G
CLNSRC ClinVar
CLNACC RCV000050123.1,


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