rs112195009
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs112195009(A;A) |
Make rs112195009(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15644488 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs112195009 |
dbSNP (classic) | rs112195009 |
ClinGen | rs112195009 |
ebi | rs112195009 |
HLI | rs112195009 |
Exac | rs112195009 |
Gnomad | rs112195009 |
Varsome | rs112195009 |
LitVar | rs112195009 |
Map | rs112195009 |
PheGenI | rs112195009 |
Biobank | rs112195009 |
1000 genomes | rs112195009 |
hgdp | rs112195009 |
ensembl | rs112195009 |
geneview | rs112195009 |
scholar | rs112195009 |
rs112195009 | |
pharmgkb | rs112195009 |
gwascentral | rs112195009 |
openSNP | rs112195009 |
23andMe | rs112195009 |
SNPshot | rs112195009 |
SNPdbe | rs112195009 |
MSV3d | rs112195009 |
GWAS Ctlg | rs112195009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112195009(A;A) |
Alt | rs112195009(A;A) |
Reference | Rs112195009(G;G) |
Significance | Pathogenic |
Disease | Biotinidase deficiency not specified |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.15685995G>A |
CLNSRC | HGMD |
CLNACC | RCV000021951.1, RCV000078077.4, |