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rs154774633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs154774633(C;C)
Make rs154774633(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position68214387
GeneCLN6
is asnp
is mentioned by
dbSNPrs154774633
ebirs154774633
HLIrs154774633
Exacrs154774633
Varsomers154774633
Maprs154774633
PheGenIrs154774633
hapmaprs154774633
1000 genomesrs154774633
hgdprs154774633
ensemblrs154774633
gopubmedrs154774633
geneviewrs154774633
scholarrs154774633
googlers154774633
pharmgkbrs154774633
gwascentralrs154774633
openSNPrs154774633
23andMers154774633
23andMe allrs154774633
SNP Nexus

SNPshotrs154774633
SNPdbers154774633
MSV3drs154774633
GWAS Ctlgrs154774633
Max Magnitude0
ClinVar
Risk rs154774633(C;C)
Alt rs154774633(C;C)
Reference rs154774633(T;T)
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.68506725A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023572.2, RCV000058909.1,


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