rs1057517221
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057517221(G;T) |
Make rs1057517221(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165829851 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs1057517221 |
dbSNP (classic) | rs1057517221 |
ClinGen | rs1057517221 |
ebi | rs1057517221 |
HLI | rs1057517221 |
Exac | rs1057517221 |
Gnomad | rs1057517221 |
Varsome | rs1057517221 |
LitVar | rs1057517221 |
Map | rs1057517221 |
PheGenI | rs1057517221 |
Biobank | rs1057517221 |
1000 genomes | rs1057517221 |
hgdp | rs1057517221 |
ensembl | rs1057517221 |
geneview | rs1057517221 |
scholar | rs1057517221 |
rs1057517221 | |
pharmgkb | rs1057517221 |
gwascentral | rs1057517221 |
openSNP | rs1057517221 |
23andMe | rs1057517221 |
SNPshot | rs1057517221 |
SNPdbe | rs1057517221 |
MSV3d | rs1057517221 |
GWAS Ctlg | rs1057517221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517221(T;T) |
Alt | rs1057517221(T;T) |
Reference | Rs1057517221(G;G) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 1 |
HGVS | NC_000003.11:g.165547639C>A |
CLNSRC | |
CLNACC | RCV000409809.1, |