rs104894484

Orientation

minus

Stabilized

minus

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

Make rs104894484(A;A)

Make rs104894484(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

68211793

Gene

CLN6

is a	snp
is	mentioned by
dbSNP	rs104894484
dbSNP (classic)	rs104894484
ClinGen	rs104894484
ebi	rs104894484
HLI	rs104894484
Exac	rs104894484
Gnomad	rs104894484
Varsome	rs104894484
LitVar	rs104894484
Map	rs104894484
PheGenI	rs104894484
Biobank	rs104894484
1000 genomes	rs104894484
hgdp	rs104894484
ensembl	rs104894484
geneview	rs104894484
scholar	rs104894484
google	rs104894484
pharmgkb	rs104894484
gwascentral	rs104894484
openSNP	rs104894484
23andMe	rs104894484
SNPshot	rs104894484
SNPdbe	rs104894484
MSV3d	rs104894484
GWAS Ctlg	rs104894484

Merged from

Rs28939384

Max Magnitude

0

OMIM	606725
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894484(A;A)
Alt	rs104894484(A;A)
Reference	Rs104894484(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 6
Variation	info
Gene	CLN6
CLNDBN	Ceroid lipofuscinosis neuronal 6
Reversed	1
HGVS	NC_000015.9:g.68504131C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004294.4,