rs1057517313

Orientation

minus

Stabilized

minus

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

Make rs1057517313(-;-)

Make rs1057517313(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

6616728

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs1057517313
dbSNP (classic)	rs1057517313
ClinGen	rs1057517313
ebi	rs1057517313
HLI	rs1057517313
Exac	rs1057517313
Gnomad	rs1057517313
Varsome	rs1057517313
LitVar	rs1057517313
Map	rs1057517313
PheGenI	rs1057517313
Biobank	rs1057517313
1000 genomes	rs1057517313
hgdp	rs1057517313
ensembl	rs1057517313
geneview	rs1057517313
scholar	rs1057517313
google	rs1057517313
pharmgkb	rs1057517313
gwascentral	rs1057517313
openSNP	rs1057517313
23andMe	rs1057517313
SNPshot	rs1057517313
SNPdbe	rs1057517313
MSV3d	rs1057517313
GWAS Ctlg	rs1057517313

Max Magnitude

0

ClinVar
Risk	rs1057517313(-;-)
Alt	rs1057517313(-;-)
Reference	Rs1057517313(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.6637959delG
CLNSRC
CLNACC	RCV000410935.1,