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rs386833963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833963(A;A)
Make rs386833963(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000771
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833963
ebirs386833963
HLIrs386833963
Exacrs386833963
Varsomers386833963
Maprs386833963
PheGenIrs386833963
hapmaprs386833963
1000 genomesrs386833963
hgdprs386833963
ensemblrs386833963
gopubmedrs386833963
geneviewrs386833963
scholarrs386833963
googlers386833963
pharmgkbrs386833963
gwascentralrs386833963
openSNPrs386833963
23andMers386833963
23andMe allrs386833963
SNP Nexus

SNPshotrs386833963
SNPdbers386833963
MSV3drs386833963
GWAS Ctlgrs386833963
Max Magnitude0
ClinVar
Risk rs386833963(A;A)
Alt rs386833963(A;A)
Reference rs386833963(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574906C>A
CLNSRC ClinVar
CLNACC RCV000049938.1,


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