Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833972(G;G)
Make rs386833972(G;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995939
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833972
ebirs386833972
HLIrs386833972
Exacrs386833972
Varsomers386833972
Maprs386833972
PheGenIrs386833972
hapmaprs386833972
1000 genomesrs386833972
hgdprs386833972
ensemblrs386833972
gopubmedrs386833972
geneviewrs386833972
scholarrs386833972
googlers386833972
pharmgkbrs386833972
gwascentralrs386833972
openSNPrs386833972
23andMers386833972
23andMe allrs386833972
SNP Nexus

SNPshotrs386833972
SNPdbers386833972
MSV3drs386833972
GWAS Ctlgrs386833972
Max Magnitude0
ClinVar
Risk rs386833972(G;G)
Alt rs386833972(G;G)
Reference rs386833972(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.77570074T>G
CLNSRC ClinVar
CLNACC RCV000049949.2,


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