rs760182781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760182781(A;A) |
Make rs760182781(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830595 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs760182781 |
dbSNP (classic) | rs760182781 |
ClinGen | rs760182781 |
ebi | rs760182781 |
HLI | rs760182781 |
Exac | rs760182781 |
Gnomad | rs760182781 |
Varsome | rs760182781 |
LitVar | rs760182781 |
Map | rs760182781 |
PheGenI | rs760182781 |
Biobank | rs760182781 |
1000 genomes | rs760182781 |
hgdp | rs760182781 |
ensembl | rs760182781 |
geneview | rs760182781 |
scholar | rs760182781 |
rs760182781 | |
pharmgkb | rs760182781 |
gwascentral | rs760182781 |
openSNP | rs760182781 |
23andMe | rs760182781 |
SNPshot | rs760182781 |
SNPdbe | rs760182781 |
MSV3d | rs760182781 |
GWAS Ctlg | rs760182781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760182781(A;A) rs760182781(C;C) |
Alt | rs760182781(A;A) rs760182781(C;C) |
Reference | Rs760182781(G;G) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165548383G>A |
CLNSRC | |
CLNACC | RCV000409468.1, |