rs104893735
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893735(G;T) |
Make rs104893735(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15466437 |
Gene | COLQ |
is a | snp |
is | mentioned by |
dbSNP | rs104893735 |
dbSNP (classic) | rs104893735 |
ClinGen | rs104893735 |
ebi | rs104893735 |
HLI | rs104893735 |
Exac | rs104893735 |
Gnomad | rs104893735 |
Varsome | rs104893735 |
LitVar | rs104893735 |
Map | rs104893735 |
PheGenI | rs104893735 |
Biobank | rs104893735 |
1000 genomes | rs104893735 |
hgdp | rs104893735 |
ensembl | rs104893735 |
geneview | rs104893735 |
scholar | rs104893735 |
rs104893735 | |
pharmgkb | rs104893735 |
gwascentral | rs104893735 |
openSNP | rs104893735 |
23andMe | rs104893735 |
SNPshot | rs104893735 |
SNPdbe | rs104893735 |
MSV3d | rs104893735 |
GWAS Ctlg | rs104893735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893735(T;T) |
Alt | rs104893735(T;T) |
Reference | Rs104893735(G;G) |
Significance | Pathogenic |
Disease | Endplate acetylcholinesterase deficiency |
Variation | info |
Gene | COLQ |
CLNDBN | Endplate acetylcholinesterase deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.15507944C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007036.4, |