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rs104894386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894386(A;A)
Make rs104894386(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995077
GeneCLN5
is asnp
is mentioned by
dbSNPrs104894386
ebirs104894386
HLIrs104894386
Exacrs104894386
Varsomers104894386
Maprs104894386
PheGenIrs104894386
hapmaprs104894386
1000 genomesrs104894386
hgdprs104894386
ensemblrs104894386
gopubmedrs104894386
geneviewrs104894386
scholarrs104894386
googlers104894386
pharmgkbrs104894386
gwascentralrs104894386
openSNPrs104894386
23andMers104894386
23andMe allrs104894386
SNP Nexus

SNPshotrs104894386
SNPdbers104894386
MSV3drs104894386
GWAS Ctlgrs104894386
Max Magnitude0
OMIM608102
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894386(A,C;A,C)
Alt rs104894386(A,C;A,C)
Reference rs104894386(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77569212G>A; NC_000013.10:g.77569212G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002676.3, RCV000049946.1,


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