rs747983616
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs747983616(-;-) |
Make rs747983616(-;AG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830367 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs747983616 |
dbSNP (classic) | rs747983616 |
ClinGen | rs747983616 |
ebi | rs747983616 |
HLI | rs747983616 |
Exac | rs747983616 |
Gnomad | rs747983616 |
Varsome | rs747983616 |
LitVar | rs747983616 |
Map | rs747983616 |
PheGenI | rs747983616 |
Biobank | rs747983616 |
1000 genomes | rs747983616 |
hgdp | rs747983616 |
ensembl | rs747983616 |
geneview | rs747983616 |
scholar | rs747983616 |
rs747983616 | |
pharmgkb | rs747983616 |
gwascentral | rs747983616 |
openSNP | rs747983616 |
23andMe | rs747983616 |
SNPshot | rs747983616 |
SNPdbe | rs747983616 |
MSV3d | rs747983616 |
GWAS Ctlg | rs747983616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747983616(-;-) |
Alt | rs747983616(-;-) |
Reference | Rs747983616(AG;AG) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165548155_165548156delAG |
CLNSRC | |
CLNACC | RCV000410506.1, |