rs1057517362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057517362(-;-) |
Make rs1057517362(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 15645180 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs1057517362 |
dbSNP (classic) | rs1057517362 |
ClinGen | rs1057517362 |
ebi | rs1057517362 |
HLI | rs1057517362 |
Exac | rs1057517362 |
Gnomad | rs1057517362 |
Varsome | rs1057517362 |
LitVar | rs1057517362 |
Map | rs1057517362 |
PheGenI | rs1057517362 |
Biobank | rs1057517362 |
1000 genomes | rs1057517362 |
hgdp | rs1057517362 |
ensembl | rs1057517362 |
geneview | rs1057517362 |
scholar | rs1057517362 |
rs1057517362 | |
pharmgkb | rs1057517362 |
gwascentral | rs1057517362 |
openSNP | rs1057517362 |
23andMe | rs1057517362 |
SNPshot | rs1057517362 |
SNPdbe | rs1057517362 |
MSV3d | rs1057517362 |
GWAS Ctlg | rs1057517362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517362(-;-) |
Alt | rs1057517362(-;-) |
Reference | Rs1057517362(G;G) |
Significance | Probable-Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15686687delG |
CLNSRC | |
CLNACC | RCV000410785.1, |