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rs386834125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834125(A;G)
Make rs386834125(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771281
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834125
ebirs386834125
HLIrs386834125
Exacrs386834125
Varsomers386834125
Maprs386834125
PheGenIrs386834125
hapmaprs386834125
1000 genomesrs386834125
hgdprs386834125
ensemblrs386834125
gopubmedrs386834125
geneviewrs386834125
scholarrs386834125
googlers386834125
pharmgkbrs386834125
gwascentralrs386834125
openSNPrs386834125
23andMers386834125
23andMe allrs386834125
SNP Nexus

SNPshotrs386834125
SNPdbers386834125
MSV3drs386834125
GWAS Ctlgrs386834125
Max Magnitude0
ClinVar
Risk rs386834125(G;G)
Alt rs386834125(G;G)
Reference rs386834125(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.1719447A>G
CLNSRC ClinVar
CLNACC RCV000050118.1,


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