rs762341786
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762341786(G;T) |
Make rs762341786(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165829750 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs762341786 |
dbSNP (classic) | rs762341786 |
ClinGen | rs762341786 |
ebi | rs762341786 |
HLI | rs762341786 |
Exac | rs762341786 |
Gnomad | rs762341786 |
Varsome | rs762341786 |
LitVar | rs762341786 |
Map | rs762341786 |
PheGenI | rs762341786 |
Biobank | rs762341786 |
1000 genomes | rs762341786 |
hgdp | rs762341786 |
ensembl | rs762341786 |
geneview | rs762341786 |
scholar | rs762341786 |
rs762341786 | |
pharmgkb | rs762341786 |
gwascentral | rs762341786 |
openSNP | rs762341786 |
23andMe | rs762341786 |
SNPshot | rs762341786 |
SNPdbe | rs762341786 |
MSV3d | rs762341786 |
GWAS Ctlg | rs762341786 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762341786(C;C) rs762341786(T;T) |
Alt | rs762341786(C;C) rs762341786(T;T) |
Reference | Rs762341786(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.165547538G>T |
CLNSRC | |
CLNACC | RCV000409122.1, |