rs154774635

Orientation

minus

Stabilized

minus

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

Make rs154774635(C;T)

Make rs154774635(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

68218595

Gene

CLN6

is a	snp
is	mentioned by
dbSNP	rs154774635
dbSNP (classic)	rs154774635
ClinGen	rs154774635
ebi	rs154774635
HLI	rs154774635
Exac	rs154774635
Gnomad	rs154774635
Varsome	rs154774635
LitVar	rs154774635
Map	rs154774635
PheGenI	rs154774635
Biobank	rs154774635
1000 genomes	rs154774635
hgdp	rs154774635
ensembl	rs154774635
geneview	rs154774635
scholar	rs154774635
google	rs154774635
pharmgkb	rs154774635
gwascentral	rs154774635
openSNP	rs154774635
23andMe	rs154774635
SNPshot	rs154774635
SNPdbe	rs154774635
MSV3d	rs154774635
GWAS Ctlg	rs154774635

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000023574.4, RCV000058907.1,

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