rs121912789

Orientation

minus

Stabilized

minus

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

Make rs121912789(A;A)

Make rs121912789(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

1757343

Gene

CTSD

is a	snp
is	mentioned by
dbSNP	rs121912789
dbSNP (classic)	rs121912789
ClinGen	rs121912789
ebi	rs121912789
HLI	rs121912789
Exac	rs121912789
Gnomad	rs121912789
Varsome	rs121912789
LitVar	rs121912789
Map	rs121912789
PheGenI	rs121912789
Biobank	rs121912789
1000 genomes	rs121912789
hgdp	rs121912789
ensembl	rs121912789
geneview	rs121912789
scholar	rs121912789
google	rs121912789
pharmgkb	rs121912789
gwascentral	rs121912789
openSNP	rs121912789
23andMe	rs121912789
SNPshot	rs121912789
SNPdbe	rs121912789
MSV3d	rs121912789
GWAS Ctlg	rs121912789

Max Magnitude

0

OMIM	116840
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912789(A;A)
Alt	rs121912789(A;A)
Reference	Rs121912789(T;T)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 10
Variation	info
Gene	CTSD
CLNDBN	Ceroid lipofuscinosis neuronal 10
Reversed	1
HGVS	NC_000011.9:g.1778573A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019134.29,