rs137877018
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a biotinidase deficiency mutation |
Make rs137877018(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 15642040 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs137877018 |
dbSNP (classic) | rs137877018 |
ClinGen | rs137877018 |
ebi | rs137877018 |
HLI | rs137877018 |
Exac | rs137877018 |
Gnomad | rs137877018 |
Varsome | rs137877018 |
LitVar | rs137877018 |
Map | rs137877018 |
PheGenI | rs137877018 |
Biobank | rs137877018 |
1000 genomes | rs137877018 |
hgdp | rs137877018 |
ensembl | rs137877018 |
geneview | rs137877018 |
scholar | rs137877018 |
rs137877018 | |
pharmgkb | rs137877018 |
gwascentral | rs137877018 |
openSNP | rs137877018 |
23andMe | rs137877018 |
SNPshot | rs137877018 |
SNPdbe | rs137877018 |
MSV3d | rs137877018 |
GWAS Ctlg | rs137877018 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs137877018(T;T) |
Alt | rs137877018(T;T) |
Reference | Rs137877018(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | BTD |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.15683547C>T |
CLNSRC | |
CLNACC | RCV000414058.1, |