rs140080572
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140080572(A;A) |
Make rs140080572(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830277 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs140080572 |
dbSNP (classic) | rs140080572 |
ClinGen | rs140080572 |
ebi | rs140080572 |
HLI | rs140080572 |
Exac | rs140080572 |
Gnomad | rs140080572 |
Varsome | rs140080572 |
LitVar | rs140080572 |
Map | rs140080572 |
PheGenI | rs140080572 |
Biobank | rs140080572 |
1000 genomes | rs140080572 |
hgdp | rs140080572 |
ensembl | rs140080572 |
geneview | rs140080572 |
scholar | rs140080572 |
rs140080572 | |
pharmgkb | rs140080572 |
gwascentral | rs140080572 |
openSNP | rs140080572 |
23andMe | rs140080572 |
SNPshot | rs140080572 |
SNPdbe | rs140080572 |
MSV3d | rs140080572 |
GWAS Ctlg | rs140080572 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140080572(A;A) |
Alt | rs140080572(A;A) |
Reference | Rs140080572(C;C) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165548065C>A |
CLNSRC | |
CLNACC | RCV000411278.1, |