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rs104894484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894484(A;A)
Make rs104894484(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position68211793
GeneCLN6
is asnp
is mentioned by
dbSNPrs104894484
ebirs104894484
HLIrs104894484
Exacrs104894484
Varsomers104894484
Maprs104894484
PheGenIrs104894484
hapmaprs104894484
1000 genomesrs104894484
hgdprs104894484
ensemblrs104894484
gopubmedrs104894484
geneviewrs104894484
scholarrs104894484
googlers104894484
pharmgkbrs104894484
gwascentralrs104894484
openSNPrs104894484
23andMers104894484
23andMe allrs104894484
SNP Nexus

SNPshotrs104894484
SNPdbers104894484
MSV3drs104894484
GWAS Ctlgrs104894484
Merged fromRs28939384
Max Magnitude0
OMIM606725
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894484(A;A)
Alt rs104894484(A;A)
Reference rs104894484(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6
Reversed 1
HGVS NC_000015.9:g.68504131C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004294.4,