rs747196387
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs747196387(A;A) |
Make rs747196387(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830139 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs747196387 |
dbSNP (classic) | rs747196387 |
ClinGen | rs747196387 |
ebi | rs747196387 |
HLI | rs747196387 |
Exac | rs747196387 |
Gnomad | rs747196387 |
Varsome | rs747196387 |
LitVar | rs747196387 |
Map | rs747196387 |
PheGenI | rs747196387 |
Biobank | rs747196387 |
1000 genomes | rs747196387 |
hgdp | rs747196387 |
ensembl | rs747196387 |
geneview | rs747196387 |
scholar | rs747196387 |
rs747196387 | |
pharmgkb | rs747196387 |
gwascentral | rs747196387 |
openSNP | rs747196387 |
23andMe | rs747196387 |
SNPshot | rs747196387 |
SNPdbe | rs747196387 |
MSV3d | rs747196387 |
GWAS Ctlg | rs747196387 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747196387(A;A) |
Alt | rs747196387(A;A) |
Reference | Rs747196387(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.165547927C>A |
CLNSRC | |
CLNACC | RCV000409335.1, |