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rs154774634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs154774634(A;A)
Make rs154774634(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position68211853
GeneCLN6
is asnp
is mentioned by
dbSNPrs154774634
ebirs154774634
HLIrs154774634
Exacrs154774634
Varsomers154774634
Maprs154774634
PheGenIrs154774634
hapmaprs154774634
1000 genomesrs154774634
hgdprs154774634
ensemblrs154774634
gopubmedrs154774634
geneviewrs154774634
scholarrs154774634
googlers154774634
pharmgkbrs154774634
gwascentralrs154774634
openSNPrs154774634
23andMers154774634
23andMe allrs154774634
SNP Nexus

SNPshotrs154774634
SNPdbers154774634
MSV3drs154774634
GWAS Ctlgrs154774634
Max Magnitude0
ClinVar
Risk rs154774634(A;A)
Alt rs154774634(A;A)
Reference rs154774634(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.68504191C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023573.4, RCV000058911.1,


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