rs397514395
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397514395(-;-) |
Make rs397514395(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15644789 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs397514395 |
dbSNP (classic) | rs397514395 |
ClinGen | rs397514395 |
ebi | rs397514395 |
HLI | rs397514395 |
Exac | rs397514395 |
Gnomad | rs397514395 |
Varsome | rs397514395 |
LitVar | rs397514395 |
Map | rs397514395 |
PheGenI | rs397514395 |
Biobank | rs397514395 |
1000 genomes | rs397514395 |
hgdp | rs397514395 |
ensembl | rs397514395 |
geneview | rs397514395 |
scholar | rs397514395 |
rs397514395 | |
pharmgkb | rs397514395 |
gwascentral | rs397514395 |
openSNP | rs397514395 |
23andMe | rs397514395 |
SNPshot | rs397514395 |
SNPdbe | rs397514395 |
MSV3d | rs397514395 |
GWAS Ctlg | rs397514395 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514395(-;-) |
Alt | rs397514395(-;-) |
Reference | Rs397514395(T;T) |
Significance | Other |
Disease | Biotinidase deficiency not provided |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.15686296delT |
CLNSRC | HGMD |
CLNACC | RCV000021974.5, RCV000078082.4, |