rs779366544
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs779366544(C;C) |
Make rs779366544(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165773508 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs779366544 |
dbSNP (classic) | rs779366544 |
ClinGen | rs779366544 |
ebi | rs779366544 |
HLI | rs779366544 |
Exac | rs779366544 |
Gnomad | rs779366544 |
Varsome | rs779366544 |
LitVar | rs779366544 |
Map | rs779366544 |
PheGenI | rs779366544 |
Biobank | rs779366544 |
1000 genomes | rs779366544 |
hgdp | rs779366544 |
ensembl | rs779366544 |
geneview | rs779366544 |
scholar | rs779366544 |
rs779366544 | |
pharmgkb | rs779366544 |
gwascentral | rs779366544 |
openSNP | rs779366544 |
23andMe | rs779366544 |
SNPshot | rs779366544 |
SNPdbe | rs779366544 |
MSV3d | rs779366544 |
GWAS Ctlg | rs779366544 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779366544(C;C) |
Alt | rs779366544(C;C) |
Reference | Rs779366544(T;T) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165491296T>C |
CLNSRC | |
CLNACC | RCV000412448.1, |