rs121908205

Orientation

minus

Stabilized

minus

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

Make rs121908205(C;T)

Make rs121908205(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

6617057

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs121908205
dbSNP (classic)	rs121908205
ClinGen	rs121908205
ebi	rs121908205
HLI	rs121908205
Exac	rs121908205
Gnomad	rs121908205
Varsome	rs121908205
LitVar	rs121908205
Map	rs121908205
PheGenI	rs121908205
Biobank	rs121908205
1000 genomes	rs121908205
hgdp	rs121908205
ensembl	rs121908205
geneview	rs121908205
scholar	rs121908205
google	rs121908205
pharmgkb	rs121908205
gwascentral	rs121908205
openSNP	rs121908205
23andMe	rs121908205
SNPshot	rs121908205
SNPdbe	rs121908205
MSV3d	rs121908205
GWAS Ctlg	rs121908205

Max Magnitude

0

ClinVar
Risk	rs121908205(T;T)
Alt	rs121908205(T;T)
Reference	Rs121908205(C;C)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6638288G>A
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059629.2,