rs1057516511

Orientation

minus

Stabilized

minus

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

Make rs1057516511(A;A)

Make rs1057516511(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6614687

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs1057516511
dbSNP (classic)	rs1057516511
ClinGen	rs1057516511
ebi	rs1057516511
HLI	rs1057516511
Exac	rs1057516511
Gnomad	rs1057516511
Varsome	rs1057516511
LitVar	rs1057516511
Map	rs1057516511
PheGenI	rs1057516511
Biobank	rs1057516511
1000 genomes	rs1057516511
hgdp	rs1057516511
ensembl	rs1057516511
geneview	rs1057516511
scholar	rs1057516511
google	rs1057516511
pharmgkb	rs1057516511
gwascentral	rs1057516511
openSNP	rs1057516511
23andMe	rs1057516511
SNPshot	rs1057516511
SNPdbe	rs1057516511
MSV3d	rs1057516511
GWAS Ctlg	rs1057516511

Max Magnitude

0

ClinVar
Risk	rs1057516511(A;A)
Alt	rs1057516511(A;A)
Reference	Rs1057516511(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.6635918C>T
CLNSRC
CLNACC	RCV000409021.1,