rs587783008
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587783008(-;-) |
Make rs587783008(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 15641893 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs587783008 |
dbSNP (classic) | rs587783008 |
ClinGen | rs587783008 |
ebi | rs587783008 |
HLI | rs587783008 |
Exac | rs587783008 |
Gnomad | rs587783008 |
Varsome | rs587783008 |
LitVar | rs587783008 |
Map | rs587783008 |
PheGenI | rs587783008 |
Biobank | rs587783008 |
1000 genomes | rs587783008 |
hgdp | rs587783008 |
ensembl | rs587783008 |
geneview | rs587783008 |
scholar | rs587783008 |
rs587783008 | |
pharmgkb | rs587783008 |
gwascentral | rs587783008 |
openSNP | rs587783008 |
23andMe | rs587783008 |
SNPshot | rs587783008 |
SNPdbe | rs587783008 |
MSV3d | rs587783008 |
GWAS Ctlg | rs587783008 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783008(-;-) |
Alt | rs587783008(-;-) |
Reference | Rs587783008(T;T) |
Significance | Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15683400delT |
CLNSRC | |
CLNACC | RCV000144063.1, |