rs113019349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113019349(C;G) |
Make rs113019349(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 6616004 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs113019349 |
dbSNP (classic) | rs113019349 |
ClinGen | rs113019349 |
ebi | rs113019349 |
HLI | rs113019349 |
Exac | rs113019349 |
Gnomad | rs113019349 |
Varsome | rs113019349 |
LitVar | rs113019349 |
Map | rs113019349 |
PheGenI | rs113019349 |
Biobank | rs113019349 |
1000 genomes | rs113019349 |
hgdp | rs113019349 |
ensembl | rs113019349 |
geneview | rs113019349 |
scholar | rs113019349 |
rs113019349 | |
pharmgkb | rs113019349 |
gwascentral | rs113019349 |
openSNP | rs113019349 |
23andMe | rs113019349 |
SNPshot | rs113019349 |
SNPdbe | rs113019349 |
MSV3d | rs113019349 |
GWAS Ctlg | rs113019349 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113019349(G;G) rs113019349(T;T) |
Alt | rs113019349(G;G) rs113019349(T;T) |
Reference | Rs113019349(C;C) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 2 |
Variation | info |
Gene | TPP1 |
CLNDBN | Ceroid lipofuscinosis neuronal 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.6637235C>T |
CLNSRC | |
CLNACC | RCV000411197.1, |