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rs121908080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATC;ATC) 0 common in complete genomics
(TCA;TCA) 0 common in clinvar
Make rs121908080(-;-)
Make rs121908080(-;ATC)
ReferenceGRCh38 38.1/141
Chromosome15
Position68211699
GeneCLN6
is asnp
is mentioned by
dbSNPrs121908080
ebirs121908080
HLIrs121908080
Exacrs121908080
Varsomers121908080
Maprs121908080
PheGenIrs121908080
hapmaprs121908080
1000 genomesrs121908080
hgdprs121908080
ensemblrs121908080
gopubmedrs121908080
geneviewrs121908080
scholarrs121908080
googlers121908080
pharmgkbrs121908080
gwascentralrs121908080
openSNPrs121908080
23andMers121908080
23andMe allrs121908080
SNP Nexus

SNPshotrs121908080
SNPdbers121908080
MSV3drs121908080
GWAS Ctlgrs121908080
Max Magnitude0
OMIM606725
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908080(;)
Alt rs121908080(;)
Reference rs121908080(TCA;TCA)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6
Reversed 1
HGVS NC_000015.9:g.68504037_68504039delGAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004298.5, RCV000184041.1,