rs778232650
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTCCATAG;CTCCATAG) | 0 | common in clinvar |
Make rs778232650(-;-) |
Make rs778232650(-;CTCCATAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 6616411 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs778232650 |
dbSNP (classic) | rs778232650 |
ClinGen | rs778232650 |
ebi | rs778232650 |
HLI | rs778232650 |
Exac | rs778232650 |
Gnomad | rs778232650 |
Varsome | rs778232650 |
LitVar | rs778232650 |
Map | rs778232650 |
PheGenI | rs778232650 |
Biobank | rs778232650 |
1000 genomes | rs778232650 |
hgdp | rs778232650 |
ensembl | rs778232650 |
geneview | rs778232650 |
scholar | rs778232650 |
rs778232650 | |
pharmgkb | rs778232650 |
gwascentral | rs778232650 |
openSNP | rs778232650 |
23andMe | rs778232650 |
SNPshot | rs778232650 |
SNPdbe | rs778232650 |
MSV3d | rs778232650 |
GWAS Ctlg | rs778232650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778232650(-;-) |
Alt | rs778232650(-;-) |
Reference | Rs778232650(CTCCATAG;CTCCATAG) |
Significance | Probable-Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 2 |
Variation | info |
Gene | TPP1 |
CLNDBN | Ceroid lipofuscinosis neuronal 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.6637642_6637649delCTCCATAG |
CLNSRC | Counsyl |
CLNACC | RCV000169200.1, |