rs769982050
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769982050(-;-) |
Make rs769982050(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 15456012 |
Gene | COLQ |
is a | snp |
is | mentioned by |
dbSNP | rs769982050 |
dbSNP (classic) | rs769982050 |
ClinGen | rs769982050 |
ebi | rs769982050 |
HLI | rs769982050 |
Exac | rs769982050 |
Gnomad | rs769982050 |
Varsome | rs769982050 |
LitVar | rs769982050 |
Map | rs769982050 |
PheGenI | rs769982050 |
Biobank | rs769982050 |
1000 genomes | rs769982050 |
hgdp | rs769982050 |
ensembl | rs769982050 |
geneview | rs769982050 |
scholar | rs769982050 |
rs769982050 | |
pharmgkb | rs769982050 |
gwascentral | rs769982050 |
openSNP | rs769982050 |
23andMe | rs769982050 |
SNPshot | rs769982050 |
SNPdbe | rs769982050 |
MSV3d | rs769982050 |
GWAS Ctlg | rs769982050 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769982050(-;-) |
Alt | rs769982050(-;-) |
Reference | Rs769982050(G;G) |
Significance | Pathogenic |
Disease | Endplate acetylcholinesterase deficiency |
Variation | info |
Gene | COLQ |
CLNDBN | Endplate acetylcholinesterase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15497519delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007031.3, |