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rs121908079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAT;TAT) 0 common in clinvar
Make rs121908079(-;-)
Make rs121908079(-;TAT)
ReferenceGRCh38 38.1/141
Chromosome15
Position68211292
GeneCLN6
is asnp
is mentioned by
dbSNPrs121908079
ebirs121908079
HLIrs121908079
Exacrs121908079
Varsomers121908079
Maprs121908079
PheGenIrs121908079
hapmaprs121908079
1000 genomesrs121908079
hgdprs121908079
ensemblrs121908079
gopubmedrs121908079
geneviewrs121908079
scholarrs121908079
googlers121908079
pharmgkbrs121908079
gwascentralrs121908079
openSNPrs121908079
23andMers121908079
23andMe allrs121908079
SNP Nexus

SNPshotrs121908079
SNPdbers121908079
MSV3drs121908079
GWAS Ctlgrs121908079
Max Magnitude0
OMIM606725
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908079(;)
Alt rs121908079(;)
Reference rs121908079(TAT;TAT)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6
Reversed 1
HGVS NC_000015.9:g.68503630_68503632delATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004293.3,