rs864309505

Orientation

minus

Stabilized

minus

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

Make rs864309505(A;C)

Make rs864309505(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

6615220

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs864309505
dbSNP (classic)	rs864309505
ClinGen	rs864309505
ebi	rs864309505
HLI	rs864309505
Exac	rs864309505
Gnomad	rs864309505
Varsome	rs864309505
LitVar	rs864309505
Map	rs864309505
PheGenI	rs864309505
Biobank	rs864309505
1000 genomes	rs864309505
hgdp	rs864309505
ensembl	rs864309505
geneview	rs864309505
scholar	rs864309505
google	rs864309505
pharmgkb	rs864309505
gwascentral	rs864309505
openSNP	rs864309505
23andMe	rs864309505
SNPshot	rs864309505
SNPdbe	rs864309505
MSV3d	rs864309505
GWAS Ctlg	rs864309505

Max Magnitude

0

ClinVar
Risk	rs864309505(C;C)
Alt	rs864309505(C;C)
Reference	Rs864309505(A;A)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6636451T>G
CLNSRC
CLNACC	RCV000202601.2,