rs114706984
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs114706984(A;A) |
Make rs114706984(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830399 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs114706984 |
dbSNP (classic) | rs114706984 |
ClinGen | rs114706984 |
ebi | rs114706984 |
HLI | rs114706984 |
Exac | rs114706984 |
Gnomad | rs114706984 |
Varsome | rs114706984 |
LitVar | rs114706984 |
Map | rs114706984 |
PheGenI | rs114706984 |
Biobank | rs114706984 |
1000 genomes | rs114706984 |
hgdp | rs114706984 |
ensembl | rs114706984 |
geneview | rs114706984 |
scholar | rs114706984 |
rs114706984 | |
pharmgkb | rs114706984 |
gwascentral | rs114706984 |
openSNP | rs114706984 |
23andMe | rs114706984 |
SNPshot | rs114706984 |
SNPdbe | rs114706984 |
MSV3d | rs114706984 |
GWAS Ctlg | rs114706984 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs114706984(A;A) |
Alt | rs114706984(A;A) |
Reference | Rs114706984(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.165548187G>A |
CLNSRC | |
CLNACC | RCV000412062.1, |