rs201023772
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201023772(A;G) |
Make rs201023772(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15645061 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs201023772 |
dbSNP (classic) | rs201023772 |
ClinGen | rs201023772 |
ebi | rs201023772 |
HLI | rs201023772 |
Exac | rs201023772 |
Gnomad | rs201023772 |
Varsome | rs201023772 |
LitVar | rs201023772 |
Map | rs201023772 |
PheGenI | rs201023772 |
Biobank | rs201023772 |
1000 genomes | rs201023772 |
hgdp | rs201023772 |
ensembl | rs201023772 |
geneview | rs201023772 |
scholar | rs201023772 |
rs201023772 | |
pharmgkb | rs201023772 |
gwascentral | rs201023772 |
openSNP | rs201023772 |
23andMe | rs201023772 |
SNPshot | rs201023772 |
SNPdbe | rs201023772 |
MSV3d | rs201023772 |
GWAS Ctlg | rs201023772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201023772(G;G) |
Alt | rs201023772(G;G) |
Reference | Rs201023772(A;A) |
Significance | Pathogenic |
Disease | Biotinidase deficiency not specified |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.15686568A>G |
CLNSRC | ARUP BTD |
CLNACC | RCV000021987.1, RCV000405919.1, |