rs797045137
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045137(G;T) |
Make rs797045137(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 1758994 |
Gene | CTSD |
is a | snp |
is | mentioned by |
dbSNP | rs797045137 |
dbSNP (classic) | rs797045137 |
ClinGen | rs797045137 |
ebi | rs797045137 |
HLI | rs797045137 |
Exac | rs797045137 |
Gnomad | rs797045137 |
Varsome | rs797045137 |
LitVar | rs797045137 |
Map | rs797045137 |
PheGenI | rs797045137 |
Biobank | rs797045137 |
1000 genomes | rs797045137 |
hgdp | rs797045137 |
ensembl | rs797045137 |
geneview | rs797045137 |
scholar | rs797045137 |
rs797045137 | |
pharmgkb | rs797045137 |
gwascentral | rs797045137 |
openSNP | rs797045137 |
23andMe | rs797045137 |
SNPshot | rs797045137 |
SNPdbe | rs797045137 |
MSV3d | rs797045137 |
GWAS Ctlg | rs797045137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045137(T;T) |
Alt | rs797045137(T;T) |
Reference | Rs797045137(G;G) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 10 |
Variation | info |
Gene | CTSD |
CLNDBN | Ceroid lipofuscinosis neuronal 10 |
Reversed | 1 |
HGVS | NC_000011.9:g.1780224C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190882.3, |