rs115624085
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs115624085(C;C) |
Make rs115624085(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830150 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs115624085 |
dbSNP (classic) | rs115624085 |
ClinGen | rs115624085 |
ebi | rs115624085 |
HLI | rs115624085 |
Exac | rs115624085 |
Gnomad | rs115624085 |
Varsome | rs115624085 |
LitVar | rs115624085 |
Map | rs115624085 |
PheGenI | rs115624085 |
Biobank | rs115624085 |
1000 genomes | rs115624085 |
hgdp | rs115624085 |
ensembl | rs115624085 |
geneview | rs115624085 |
scholar | rs115624085 |
rs115624085 | |
pharmgkb | rs115624085 |
gwascentral | rs115624085 |
openSNP | rs115624085 |
23andMe | rs115624085 |
SNPshot | rs115624085 |
SNPdbe | rs115624085 |
MSV3d | rs115624085 |
GWAS Ctlg | rs115624085 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs115624085(C;C) |
Alt | rs115624085(C;C) |
Reference | Rs115624085(T;T) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165547938T>C |
CLNSRC | |
CLNACC | RCV000490369.1, |