rs755445790
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs755445790(C;C) |
Make rs755445790(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 6616513 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs755445790 |
dbSNP (classic) | rs755445790 |
ClinGen | rs755445790 |
ebi | rs755445790 |
HLI | rs755445790 |
Exac | rs755445790 |
Gnomad | rs755445790 |
Varsome | rs755445790 |
LitVar | rs755445790 |
Map | rs755445790 |
PheGenI | rs755445790 |
Biobank | rs755445790 |
1000 genomes | rs755445790 |
hgdp | rs755445790 |
ensembl | rs755445790 |
geneview | rs755445790 |
scholar | rs755445790 |
rs755445790 | |
pharmgkb | rs755445790 |
gwascentral | rs755445790 |
openSNP | rs755445790 |
23andMe | rs755445790 |
SNPshot | rs755445790 |
SNPdbe | rs755445790 |
MSV3d | rs755445790 |
GWAS Ctlg | rs755445790 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755445790(C;C) |
Alt | rs755445790(C;C) |
Reference | Rs755445790(T;T) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 2 not specified |
Variation | info |
Gene | TPP1 |
CLNDBN | Ceroid lipofuscinosis neuronal 2 not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.6637744T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002768.3, RCV000359791.1, |