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rs154774636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs154774636(C;C)
Make rs154774636(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position68229568
GeneCLN6
is asnp
is mentioned by
dbSNPrs154774636
ebirs154774636
HLIrs154774636
Exacrs154774636
Varsomers154774636
Maprs154774636
PheGenIrs154774636
hapmaprs154774636
1000 genomesrs154774636
hgdprs154774636
ensemblrs154774636
gopubmedrs154774636
geneviewrs154774636
scholarrs154774636
googlers154774636
pharmgkbrs154774636
gwascentralrs154774636
openSNPrs154774636
23andMers154774636
23andMe allrs154774636
SNP Nexus

SNPshotrs154774636
SNPdbers154774636
MSV3drs154774636
GWAS Ctlgrs154774636
Max Magnitude0
ClinVar
Risk rs154774636(C;C)
Alt rs154774636(C;C)
Reference rs154774636(G;G)
Significance Pathogenic
Disease Adult neuronal ceroid lipofuscinosis not provided
Variation info
Gene CLN6
CLNDBN Adult neuronal ceroid lipofuscinosis not provided
Reversed 1
HGVS NC_000015.9:g.68521906C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023575.4, RCV000058915.1,


[PMID 21549341OA-icon.png] Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.