rs104894483

Orientation

minus

Stabilized

minus

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

Make rs104894483(G;T)

Make rs104894483(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

68214373

Gene

CLN6

is a	snp
is	mentioned by
dbSNP	rs104894483
dbSNP (classic)	rs104894483
ClinGen	rs104894483
ebi	rs104894483
HLI	rs104894483
Exac	rs104894483
Gnomad	rs104894483
Varsome	rs104894483
LitVar	rs104894483
Map	rs104894483
PheGenI	rs104894483
Biobank	rs104894483
1000 genomes	rs104894483
hgdp	rs104894483
ensembl	rs104894483
geneview	rs104894483
scholar	rs104894483
google	rs104894483
pharmgkb	rs104894483
gwascentral	rs104894483
openSNP	rs104894483
23andMe	rs104894483
SNPshot	rs104894483
SNPdbe	rs104894483
MSV3d	rs104894483
GWAS Ctlg	rs104894483

GMAF

0.001377

Max Magnitude

0

OMIM	606725
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894483(A;A) rs104894483(C;C) rs104894483(T;T)
Alt	rs104894483(A;A) rs104894483(C;C) rs104894483(T;T)
Reference	Rs104894483(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 6 not provided not specified Neuronal ceroid lipofuscinosis
Variation	info
Gene	CLN6
CLNDBN	Ceroid lipofuscinosis neuronal 6 not provided not specified Neuronal ceroid lipofuscinosis
Reversed	1
HGVS	NC_000015.9:g.68506711C>A; NC_000015.9:g.68506711C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004292.4, RCV000492979.1, RCV000177296.3, RCV000468908.1,