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rs794729220

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GTCGCCTGG;GTCGCCTGG) 0 common in clinvar
Make rs794729220(-;-)
Make rs794729220(-;GTCGCCTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position68208239
GeneCLN6
is asnp
is mentioned by
dbSNPrs794729220
dbSNP (old)rs794729220
ClinGenrs794729220
ebirs794729220
HLIrs794729220
Exacrs794729220
Gnomadrs794729220
Varsomers794729220
Maprs794729220
PheGenIrs794729220
Biobankrs794729220
1000 genomesrs794729220
hgdprs794729220
ensemblrs794729220
gopubmedrs794729220
geneviewrs794729220
scholarrs794729220
googlers794729220
pharmgkbrs794729220
gwascentralrs794729220
openSNPrs794729220
23andMers794729220
23andMe allrs794729220
SNP Nexus

SNPshotrs794729220
SNPdbers794729220
MSV3drs794729220
GWAS Ctlgrs794729220
Max Magnitude0
ClinVar
Risk rs794729220(-;-)
Alt rs794729220(-;-)
Reference Rs794729220(GTCGCCTGG;GTCGCCTGG)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 6
Variation info
Gene CLN6
CLNDBN Ceroid lipofuscinosis neuronal 6
Reversed 1
HGVS NC_000015.9:g.68500577_68500585delCCAGGCGAC
CLNSRC
CLNACC RCV000184041.1,