rs121912790

Orientation

minus

Stabilized

minus

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

Make rs121912790(C;C)

Make rs121912790(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

1753593

Gene

CTSD

is a	snp
is	mentioned by
dbSNP	rs121912790
dbSNP (classic)	rs121912790
ClinGen	rs121912790
ebi	rs121912790
HLI	rs121912790
Exac	rs121912790
Gnomad	rs121912790
Varsome	rs121912790
LitVar	rs121912790
Map	rs121912790
PheGenI	rs121912790
Biobank	rs121912790
1000 genomes	rs121912790
hgdp	rs121912790
ensembl	rs121912790
geneview	rs121912790
scholar	rs121912790
google	rs121912790
pharmgkb	rs121912790
gwascentral	rs121912790
openSNP	rs121912790
23andMe	rs121912790
SNPshot	rs121912790
SNPdbe	rs121912790
MSV3d	rs121912790
GWAS Ctlg	rs121912790

Max Magnitude

0

OMIM	116840
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912790(C;C)
Alt	rs121912790(C;C)
Reference	Rs121912790(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 10
Variation	info
Gene	CTSD
CLNDBN	Ceroid lipofuscinosis neuronal 10
Reversed	1
HGVS	NC_000011.9:g.1774823C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019135.25,