rs796053439

Orientation

minus

Stabilized

minus

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

Make rs796053439(A;G)

Make rs796053439(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6616714

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs796053439
dbSNP (classic)	rs796053439
ClinGen	rs796053439
ebi	rs796053439
HLI	rs796053439
Exac	rs796053439
Gnomad	rs796053439
Varsome	rs796053439
LitVar	rs796053439
Map	rs796053439
PheGenI	rs796053439
Biobank	rs796053439
1000 genomes	rs796053439
hgdp	rs796053439
ensembl	rs796053439
geneview	rs796053439
scholar	rs796053439
google	rs796053439
pharmgkb	rs796053439
gwascentral	rs796053439
openSNP	rs796053439
23andMe	rs796053439
SNPshot	rs796053439
SNPdbe	rs796053439
MSV3d	rs796053439
GWAS Ctlg	rs796053439

Max Magnitude

0

ClinVar
Risk	rs796053439(G;G)
Alt	rs796053439(G;G)
Reference	Rs796053439(A;A)
Significance	Pathogenic
Disease	not provided Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	not provided Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6637945T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000189774.2, RCV000209853.1,