rs786204553

Orientation

minus

Stabilized

minus

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

Make rs786204553(A;A)

Make rs786204553(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6614865

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs786204553
dbSNP (classic)	rs786204553
ClinGen	rs786204553
ebi	rs786204553
HLI	rs786204553
Exac	rs786204553
Gnomad	rs786204553
Varsome	rs786204553
LitVar	rs786204553
Map	rs786204553
PheGenI	rs786204553
Biobank	rs786204553
1000 genomes	rs786204553
hgdp	rs786204553
ensembl	rs786204553
geneview	rs786204553
scholar	rs786204553
google	rs786204553
pharmgkb	rs786204553
gwascentral	rs786204553
openSNP	rs786204553
23andMe	rs786204553
SNPshot	rs786204553
SNPdbe	rs786204553
MSV3d	rs786204553
GWAS Ctlg	rs786204553

Max Magnitude

0

ClinVar
Risk	rs786204553(A;A) rs786204553(C;C)
Alt	rs786204553(A;A) rs786204553(C;C)
Reference	Rs786204553(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.6636096C>G; NC_000011.9:g.6636096C>T
CLNSRC
CLNACC	RCV000411444.1, RCV000169269.1,