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rs104894483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894483(G;T)
Make rs104894483(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position68214373
GeneCLN6
is asnp
is mentioned by
dbSNPrs104894483
ebirs104894483
HLIrs104894483
Exacrs104894483
Varsomers104894483
Maprs104894483
PheGenIrs104894483
hapmaprs104894483
1000 genomesrs104894483
hgdprs104894483
ensemblrs104894483
gopubmedrs104894483
geneviewrs104894483
scholarrs104894483
googlers104894483
pharmgkbrs104894483
gwascentralrs104894483
openSNPrs104894483
23andMers104894483
23andMe allrs104894483
SNP Nexus

SNPshotrs104894483
SNPdbers104894483
MSV3drs104894483
GWAS Ctlgrs104894483
GMAF0.001377
Max Magnitude0
OMIM606725
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894483(A,C,T;A,C,T)
Alt rs104894483(A,C,T;A,C,T)
Reference rs104894483(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6 not provided
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6 not provided
Reversed 1
HGVS NC_000015.9:g.68506711C>A; NC_000015.9:g.68506711C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004292.4, RCV000177296.1,