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rs104894486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894486(C;G)
Make rs104894486(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position68209639
GeneCLN6
is asnp
is mentioned by
dbSNPrs104894486
ebirs104894486
HLIrs104894486
Exacrs104894486
Varsomers104894486
Maprs104894486
PheGenIrs104894486
hapmaprs104894486
1000 genomesrs104894486
hgdprs104894486
ensemblrs104894486
gopubmedrs104894486
geneviewrs104894486
scholarrs104894486
googlers104894486
pharmgkbrs104894486
gwascentralrs104894486
openSNPrs104894486
23andMers104894486
23andMe allrs104894486
SNP Nexus

SNPshotrs104894486
SNPdbers104894486
MSV3drs104894486
GWAS Ctlgrs104894486
Max Magnitude0
OMIM606725
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894486(G;G)
Alt rs104894486(G;G)
Reference rs104894486(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6
Reversed 1
HGVS NC_000015.9:g.68501977G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004299.3,