rs754214624
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs754214624(-;T) |
Make rs754214624(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830006 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs754214624 |
dbSNP (classic) | rs754214624 |
ClinGen | rs754214624 |
ebi | rs754214624 |
HLI | rs754214624 |
Exac | rs754214624 |
Gnomad | rs754214624 |
Varsome | rs754214624 |
LitVar | rs754214624 |
Map | rs754214624 |
PheGenI | rs754214624 |
Biobank | rs754214624 |
1000 genomes | rs754214624 |
hgdp | rs754214624 |
ensembl | rs754214624 |
geneview | rs754214624 |
scholar | rs754214624 |
rs754214624 | |
pharmgkb | rs754214624 |
gwascentral | rs754214624 |
openSNP | rs754214624 |
23andMe | rs754214624 |
SNPshot | rs754214624 |
SNPdbe | rs754214624 |
MSV3d | rs754214624 |
GWAS Ctlg | rs754214624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754214624(T;T) |
Alt | rs754214624(T;T) |
Reference | Rs754214624(-;-) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165547795dupT |
CLNSRC | |
CLNACC | RCV000411348.1, |