rs154774634

Orientation

minus

Stabilized

minus

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

Make rs154774634(A;A)

Make rs154774634(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

68211853

Gene

CLN6

is a	snp
is	mentioned by
dbSNP	rs154774634
dbSNP (classic)	rs154774634
ClinGen	rs154774634
ebi	rs154774634
HLI	rs154774634
Exac	rs154774634
Gnomad	rs154774634
Varsome	rs154774634
LitVar	rs154774634
Map	rs154774634
PheGenI	rs154774634
Biobank	rs154774634
1000 genomes	rs154774634
hgdp	rs154774634
ensembl	rs154774634
geneview	rs154774634
scholar	rs154774634
google	rs154774634
pharmgkb	rs154774634
gwascentral	rs154774634
openSNP	rs154774634
23andMe	rs154774634
SNPshot	rs154774634
SNPdbe	rs154774634
MSV3d	rs154774634
GWAS Ctlg	rs154774634

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000023573.4, RCV000058911.1,

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