rs778568717
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs778568717(-;-) |
Make rs778568717(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830241 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs778568717 |
dbSNP (classic) | rs778568717 |
ClinGen | rs778568717 |
ebi | rs778568717 |
HLI | rs778568717 |
Exac | rs778568717 |
Gnomad | rs778568717 |
Varsome | rs778568717 |
LitVar | rs778568717 |
Map | rs778568717 |
PheGenI | rs778568717 |
Biobank | rs778568717 |
1000 genomes | rs778568717 |
hgdp | rs778568717 |
ensembl | rs778568717 |
geneview | rs778568717 |
scholar | rs778568717 |
rs778568717 | |
pharmgkb | rs778568717 |
gwascentral | rs778568717 |
openSNP | rs778568717 |
23andMe | rs778568717 |
SNPshot | rs778568717 |
SNPdbe | rs778568717 |
MSV3d | rs778568717 |
GWAS Ctlg | rs778568717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778568717(-;-) |
Alt | rs778568717(-;-) |
Reference | Rs778568717(A;A) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165548029delA |
CLNSRC | |
CLNACC | RCV000410837.1, |