rs1057516667

Orientation

minus

Stabilized

minus

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

Make rs1057516667(C;C)

Make rs1057516667(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6617777

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs1057516667
dbSNP (classic)	rs1057516667
ClinGen	rs1057516667
ebi	rs1057516667
HLI	rs1057516667
Exac	rs1057516667
Gnomad	rs1057516667
Varsome	rs1057516667
LitVar	rs1057516667
Map	rs1057516667
PheGenI	rs1057516667
Biobank	rs1057516667
1000 genomes	rs1057516667
hgdp	rs1057516667
ensembl	rs1057516667
geneview	rs1057516667
scholar	rs1057516667
google	rs1057516667
pharmgkb	rs1057516667
gwascentral	rs1057516667
openSNP	rs1057516667
23andMe	rs1057516667
SNPshot	rs1057516667
SNPdbe	rs1057516667
MSV3d	rs1057516667
GWAS Ctlg	rs1057516667

Max Magnitude

0

ClinVar
Risk	rs1057516667(C;C)
Alt	rs1057516667(C;C)
Reference	Rs1057516667(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6639008C>G
CLNSRC
CLNACC	RCV000410411.1,