rs878855331
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG;TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG) | 0 | common in clinvar |
Make rs878855331(-;-) |
Make rs878855331(-;TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 6617319 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs878855331 |
dbSNP (classic) | rs878855331 |
ClinGen | rs878855331 |
ebi | rs878855331 |
HLI | rs878855331 |
Exac | rs878855331 |
Gnomad | rs878855331 |
Varsome | rs878855331 |
LitVar | rs878855331 |
Map | rs878855331 |
PheGenI | rs878855331 |
Biobank | rs878855331 |
1000 genomes | rs878855331 |
hgdp | rs878855331 |
ensembl | rs878855331 |
geneview | rs878855331 |
scholar | rs878855331 |
rs878855331 | |
pharmgkb | rs878855331 |
gwascentral | rs878855331 |
openSNP | rs878855331 |
23andMe | rs878855331 |
SNPshot | rs878855331 |
SNPdbe | rs878855331 |
MSV3d | rs878855331 |
GWAS Ctlg | rs878855331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855331(-;-) |
Alt | rs878855331(-;-) |
Reference | Rs878855331(TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG;TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 2 |
Variation | info |
Gene | TPP1 |
CLNDBN | Ceroid lipofuscinosis neuronal 2 |
Reversed | 1 |
HGVS | NC_000011.9:g.6638550_6638583del34 |
CLNSRC | Institute of Human Genetics |
CLNACC | RCV000234817.1, |