rs138818907
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 rs138818907(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15645345 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs138818907 |
dbSNP (classic) | rs138818907 |
ClinGen | rs138818907 |
ebi | rs138818907 |
HLI | rs138818907 |
Exac | rs138818907 |
Gnomad | rs138818907 |
Varsome | rs138818907 |
LitVar | rs138818907 |
Map | rs138818907 |
PheGenI | rs138818907 |
Biobank | rs138818907 |
1000 genomes | rs138818907 |
hgdp | rs138818907 |
ensembl | rs138818907 |
geneview | rs138818907 |
scholar | rs138818907 |
rs138818907 | |
pharmgkb | rs138818907 |
gwascentral | rs138818907 |
openSNP | rs138818907 |
23andMe | rs138818907 |
SNPshot | rs138818907 |
SNPdbe | rs138818907 |
MSV3d | rs138818907 |
GWAS Ctlg | rs138818907 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs138818907(T;T) |
Alt | rs138818907(T;T) |
Reference | Rs138818907(C;C) |
Significance | Pathogenic |
Disease | Biotinidase deficiency not provided |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.15686852C>T |
CLNSRC | HGMD |
CLNACC | RCV000022019.2, RCV000078068.3, |