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rs154774635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs154774635(C;T)
Make rs154774635(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position68218595
GeneCLN6
is asnp
is mentioned by
dbSNPrs154774635
ebirs154774635
HLIrs154774635
Exacrs154774635
Varsomers154774635
Maprs154774635
PheGenIrs154774635
hapmaprs154774635
1000 genomesrs154774635
hgdprs154774635
ensemblrs154774635
gopubmedrs154774635
geneviewrs154774635
scholarrs154774635
googlers154774635
pharmgkbrs154774635
gwascentralrs154774635
openSNPrs154774635
23andMers154774635
23andMe allrs154774635
SNP Nexus

SNPshotrs154774635
SNPdbers154774635
MSV3drs154774635
GWAS Ctlgrs154774635
Max Magnitude0
ClinVar
Risk rs154774635(T;T)
Alt rs154774635(T;T)
Reference rs154774635(C;C)
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.68510933G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023574.4, RCV000058907.1,


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