rs1057516945

Orientation

minus

Stabilized

minus

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

Make rs1057516945(G;G)

Make rs1057516945(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6616973

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs1057516945
dbSNP (classic)	rs1057516945
ClinGen	rs1057516945
ebi	rs1057516945
HLI	rs1057516945
Exac	rs1057516945
Gnomad	rs1057516945
Varsome	rs1057516945
LitVar	rs1057516945
Map	rs1057516945
PheGenI	rs1057516945
Biobank	rs1057516945
1000 genomes	rs1057516945
hgdp	rs1057516945
ensembl	rs1057516945
geneview	rs1057516945
scholar	rs1057516945
google	rs1057516945
pharmgkb	rs1057516945
gwascentral	rs1057516945
openSNP	rs1057516945
23andMe	rs1057516945
SNPshot	rs1057516945
SNPdbe	rs1057516945
MSV3d	rs1057516945
GWAS Ctlg	rs1057516945

Max Magnitude

0

ClinVar
Risk	rs1057516945(G;G)
Alt	rs1057516945(G;G)
Reference	Rs1057516945(T;T)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6638204A>C
CLNSRC
CLNACC	RCV000411672.1,