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rs386833981

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833981(G;G)
Make rs386833981(G;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000517
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833981
ebirs386833981
HLIrs386833981
Exacrs386833981
Varsomers386833981
Maprs386833981
PheGenIrs386833981
hapmaprs386833981
1000 genomesrs386833981
hgdprs386833981
ensemblrs386833981
gopubmedrs386833981
geneviewrs386833981
scholarrs386833981
googlers386833981
pharmgkbrs386833981
gwascentralrs386833981
openSNPrs386833981
23andMers386833981
23andMe allrs386833981
SNP Nexus

SNPshotrs386833981
SNPdbers386833981
MSV3drs386833981
GWAS Ctlgrs386833981
Max Magnitude0
ClinVar
Risk rs386833981(G;G)
Alt rs386833981(G;G)
Reference rs386833981(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574652T>G
CLNSRC ClinVar
CLNACC RCV000049958.1,


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