rs786204553
From SNPedia
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 |
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, |