rs121908200

Orientation

minus

Stabilized

minus

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

Make rs121908200(C;C)

Make rs121908200(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6615442

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs121908200
dbSNP (classic)	rs121908200
ClinGen	rs121908200
ebi	rs121908200
HLI	rs121908200
Exac	rs121908200
Gnomad	rs121908200
Varsome	rs121908200
LitVar	rs121908200
Map	rs121908200
PheGenI	rs121908200
Biobank	rs121908200
1000 genomes	rs121908200
hgdp	rs121908200
ensembl	rs121908200
geneview	rs121908200
scholar	rs121908200
google	rs121908200
pharmgkb	rs121908200
gwascentral	rs121908200
openSNP	rs121908200
23andMe	rs121908200
SNPshot	rs121908200
SNPdbe	rs121908200
MSV3d	rs121908200
GWAS Ctlg	rs121908200

Max Magnitude

0

ClinVar
Risk	rs121908200(C;C)
Alt	rs121908200(C;C)
Reference	Rs121908200(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases
Reversed	1
HGVS	NC_000011.9:g.6636673C>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059620.1, RCV000189782.2, RCV000210643.1,