rs772259613
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTT;TCTT) | 0 | common in clinvar |
Make rs772259613(-;-) |
Make rs772259613(-;TCTT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 165830536 |
Gene | BCHE |
is a | snp |
is | mentioned by |
dbSNP | rs772259613 |
dbSNP (classic) | rs772259613 |
ClinGen | rs772259613 |
ebi | rs772259613 |
HLI | rs772259613 |
Exac | rs772259613 |
Gnomad | rs772259613 |
Varsome | rs772259613 |
LitVar | rs772259613 |
Map | rs772259613 |
PheGenI | rs772259613 |
Biobank | rs772259613 |
1000 genomes | rs772259613 |
hgdp | rs772259613 |
ensembl | rs772259613 |
geneview | rs772259613 |
scholar | rs772259613 |
rs772259613 | |
pharmgkb | rs772259613 |
gwascentral | rs772259613 |
openSNP | rs772259613 |
23andMe | rs772259613 |
SNPshot | rs772259613 |
SNPdbe | rs772259613 |
MSV3d | rs772259613 |
GWAS Ctlg | rs772259613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772259613(-;-) |
Alt | rs772259613(-;-) |
Reference | Rs772259613(TCTT;TCTT) |
Significance | Probable-Pathogenic |
Disease | Deficiency of butyrylcholine esterase |
Variation | info |
Gene | BCHE |
CLNDBN | Deficiency of butyrylcholine esterase |
Reversed | 0 |
HGVS | NC_000003.11:g.165548324_165548327delTCTT |
CLNSRC | |
CLNACC | RCV000409931.1, |