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rs386833724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833724(C;G)
Make rs386833724(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486629
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833724
ebirs386833724
HLIrs386833724
Exacrs386833724
Varsomers386833724
Maprs386833724
PheGenIrs386833724
hapmaprs386833724
1000 genomesrs386833724
hgdprs386833724
ensemblrs386833724
gopubmedrs386833724
geneviewrs386833724
scholarrs386833724
googlers386833724
pharmgkbrs386833724
gwascentralrs386833724
openSNPrs386833724
23andMers386833724
23andMe allrs386833724
SNP Nexus

SNPshotrs386833724
SNPdbers386833724
MSV3drs386833724
GWAS Ctlgrs386833724
Max Magnitude0
ClinVar
Risk rs386833724(G;G)
Alt rs386833724(G;G)
Reference rs386833724(C;C)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497950G>C
CLNSRC ClinVar
CLNACC RCV000049686.1,


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