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rs104894064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894064(C;G)
Make rs104894064(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771124
GeneCLN8
is asnp
is mentioned by
dbSNPrs104894064
ebirs104894064
HLIrs104894064
Exacrs104894064
Varsomers104894064
Maprs104894064
PheGenIrs104894064
hapmaprs104894064
1000 genomesrs104894064
hgdprs104894064
ensemblrs104894064
gopubmedrs104894064
geneviewrs104894064
scholarrs104894064
googlers104894064
pharmgkbrs104894064
gwascentralrs104894064
openSNPrs104894064
23andMers104894064
23andMe allrs104894064
SNP Nexus

SNPshotrs104894064
SNPdbers104894064
MSV3drs104894064
GWAS Ctlgrs104894064
Max Magnitude0
OMIM607837
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894064(G,T;G,T)
Alt rs104894064(G,T;G,T)
Reference rs104894064(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
Reversed 0
HGVS NC_000008.10:g.1719290C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002936.2,