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rs386833978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833978(C;C)
Make rs386833978(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76996035
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833978
ebirs386833978
HLIrs386833978
Exacrs386833978
Varsomers386833978
Maprs386833978
PheGenIrs386833978
hapmaprs386833978
1000 genomesrs386833978
hgdprs386833978
ensemblrs386833978
gopubmedrs386833978
geneviewrs386833978
scholarrs386833978
googlers386833978
pharmgkbrs386833978
gwascentralrs386833978
openSNPrs386833978
23andMers386833978
23andMe allrs386833978
SNP Nexus

SNPshotrs386833978
SNPdbers386833978
MSV3drs386833978
GWAS Ctlgrs386833978
Max Magnitude0
ClinVar
Risk rs386833978(C;C)
Alt rs386833978(C;C)
Reference rs386833978(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.77570170G>C
CLNSRC ClinVar
CLNACC RCV000049955.1,


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