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rs386833975

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833975(A;G)
Make rs386833975(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995990
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833975
ebirs386833975
HLIrs386833975
Exacrs386833975
Varsomers386833975
Maprs386833975
PheGenIrs386833975
hapmaprs386833975
1000 genomesrs386833975
hgdprs386833975
ensemblrs386833975
gopubmedrs386833975
geneviewrs386833975
scholarrs386833975
googlers386833975
pharmgkbrs386833975
gwascentralrs386833975
openSNPrs386833975
23andMers386833975
23andMe allrs386833975
SNP Nexus

SNPshotrs386833975
SNPdbers386833975
MSV3drs386833975
GWAS Ctlgrs386833975
Max Magnitude0
ClinVar
Risk rs386833975(G;G)
Alt rs386833975(G;G)
Reference rs386833975(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77570125A>G
CLNSRC ClinVar
CLNACC RCV000049952.1,


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