rs1057516319

Orientation

minus

Stabilized

minus

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

Make rs1057516319(A;A)

Make rs1057516319(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6615449

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs1057516319
dbSNP (classic)	rs1057516319
ClinGen	rs1057516319
ebi	rs1057516319
HLI	rs1057516319
Exac	rs1057516319
Gnomad	rs1057516319
Varsome	rs1057516319
LitVar	rs1057516319
Map	rs1057516319
PheGenI	rs1057516319
Biobank	rs1057516319
1000 genomes	rs1057516319
hgdp	rs1057516319
ensembl	rs1057516319
geneview	rs1057516319
scholar	rs1057516319
google	rs1057516319
pharmgkb	rs1057516319
gwascentral	rs1057516319
openSNP	rs1057516319
23andMe	rs1057516319
SNPshot	rs1057516319
SNPdbe	rs1057516319
MSV3d	rs1057516319
GWAS Ctlg	rs1057516319

Max Magnitude

0

ClinVar
Risk	rs1057516319(A;A)
Alt	rs1057516319(A;A)
Reference	Rs1057516319(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.6636680G>T
CLNSRC
CLNACC	RCV000411513.1,