rs121908195

Orientation

minus

Stabilized

minus

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

Make rs121908195(A;A)

Make rs121908195(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6618776

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs121908195
dbSNP (classic)	rs121908195
ClinGen	rs121908195
ebi	rs121908195
HLI	rs121908195
Exac	rs121908195
Gnomad	rs121908195
Varsome	rs121908195
LitVar	rs121908195
Map	rs121908195
PheGenI	rs121908195
Biobank	rs121908195
1000 genomes	rs121908195
hgdp	rs121908195
ensembl	rs121908195
geneview	rs121908195
scholar	rs121908195
google	rs121908195
pharmgkb	rs121908195
gwascentral	rs121908195
openSNP	rs121908195
23andMe	rs121908195
SNPshot	rs121908195
SNPdbe	rs121908195
MSV3d	rs121908195
GWAS Ctlg	rs121908195

Max Magnitude

0

ClinVar
Risk	rs121908195(A;A) rs121908195(C;C)
Alt	rs121908195(A;A) rs121908195(C;C)
Reference	Rs121908195(G;G)
Significance	Pathogenic
Disease	not provided Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	not provided Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6640007C>G; NC_000011.9:g.6640007C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000189757.2, RCV000059626.1,