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rs386833725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833725(C;G)
Make rs386833725(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28486626
GeneCLN3
is asnp
is mentioned by
dbSNPrs386833725
ebirs386833725
HLIrs386833725
Exacrs386833725
Varsomers386833725
Maprs386833725
PheGenIrs386833725
hapmaprs386833725
1000 genomesrs386833725
hgdprs386833725
ensemblrs386833725
gopubmedrs386833725
geneviewrs386833725
scholarrs386833725
googlers386833725
pharmgkbrs386833725
gwascentralrs386833725
openSNPrs386833725
23andMers386833725
23andMe allrs386833725
SNP Nexus

SNPshotrs386833725
SNPdbers386833725
MSV3drs386833725
GWAS Ctlgrs386833725
Max Magnitude0
ClinVar
Risk rs386833725(G;G)
Alt rs386833725(G;G)
Reference rs386833725(C;C)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28497947G>C
CLNSRC ClinVar
CLNACC RCV000049687.1,


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