rs786205105
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205105(-;A) |
Make rs786205105(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 1754968 |
Gene | CTSD |
is a | snp |
is | mentioned by |
dbSNP | rs786205105 |
dbSNP (classic) | rs786205105 |
ClinGen | rs786205105 |
ebi | rs786205105 |
HLI | rs786205105 |
Exac | rs786205105 |
Gnomad | rs786205105 |
Varsome | rs786205105 |
LitVar | rs786205105 |
Map | rs786205105 |
PheGenI | rs786205105 |
Biobank | rs786205105 |
1000 genomes | rs786205105 |
hgdp | rs786205105 |
ensembl | rs786205105 |
geneview | rs786205105 |
scholar | rs786205105 |
rs786205105 | |
pharmgkb | rs786205105 |
gwascentral | rs786205105 |
openSNP | rs786205105 |
23andMe | rs786205105 |
SNPshot | rs786205105 |
SNPdbe | rs786205105 |
MSV3d | rs786205105 |
GWAS Ctlg | rs786205105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205105(A;A) |
Alt | rs786205105(A;A) |
Reference | Rs786205105(-;-) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 10 |
Variation | info |
Gene | CTSD |
CLNDBN | Ceroid lipofuscinosis neuronal 10 |
Reversed | 1 |
HGVS | NC_000011.9:g.1776199dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019136.29, |