rs1057517208
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057517208(C;T) |
Make rs1057517208(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830415 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs1057517208 |
dbSNP (classic) | rs1057517208 |
ClinGen | rs1057517208 |
ebi | rs1057517208 |
HLI | rs1057517208 |
Exac | rs1057517208 |
Gnomad | rs1057517208 |
Varsome | rs1057517208 |
LitVar | rs1057517208 |
Map | rs1057517208 |
PheGenI | rs1057517208 |
Biobank | rs1057517208 |
1000 genomes | rs1057517208 |
hgdp | rs1057517208 |
ensembl | rs1057517208 |
geneview | rs1057517208 |
scholar | rs1057517208 |
rs1057517208 | |
pharmgkb | rs1057517208 |
gwascentral | rs1057517208 |
openSNP | rs1057517208 |
23andMe | rs1057517208 |
SNPshot | rs1057517208 |
SNPdbe | rs1057517208 |
MSV3d | rs1057517208 |
GWAS Ctlg | rs1057517208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517208(T;T) |
Alt | rs1057517208(T;T) |
Reference | Rs1057517208(C;C) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 1 |
HGVS | NC_000003.11:g.165548203G>A |
CLNSRC | |
CLNACC | RCV000412077.1, |