rs154774636

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs154774636(C;C)

Make rs154774636(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

68229568

Gene

CLN6

is a	snp
is	mentioned by
dbSNP	rs154774636
dbSNP (classic)	rs154774636
ClinGen	rs154774636
ebi	rs154774636
HLI	rs154774636
Exac	rs154774636
Gnomad	rs154774636
Varsome	rs154774636
LitVar	rs154774636
Map	rs154774636
PheGenI	rs154774636
Biobank	rs154774636
1000 genomes	rs154774636
hgdp	rs154774636
ensembl	rs154774636
geneview	rs154774636
scholar	rs154774636
google	rs154774636
pharmgkb	rs154774636
gwascentral	rs154774636
openSNP	rs154774636
23andMe	rs154774636
SNPshot	rs154774636
SNPdbe	rs154774636
MSV3d	rs154774636
GWAS Ctlg	rs154774636

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000023575.4, RCV000058915.1,

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