rs373249212
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373249212(G;T) |
Make rs373249212(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 15635689 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs373249212 |
dbSNP (classic) | rs373249212 |
ClinGen | rs373249212 |
ebi | rs373249212 |
HLI | rs373249212 |
Exac | rs373249212 |
Gnomad | rs373249212 |
Varsome | rs373249212 |
LitVar | rs373249212 |
Map | rs373249212 |
PheGenI | rs373249212 |
Biobank | rs373249212 |
1000 genomes | rs373249212 |
hgdp | rs373249212 |
ensembl | rs373249212 |
geneview | rs373249212 |
scholar | rs373249212 |
rs373249212 | |
pharmgkb | rs373249212 |
gwascentral | rs373249212 |
openSNP | rs373249212 |
23andMe | rs373249212 |
SNPshot | rs373249212 |
SNPdbe | rs373249212 |
MSV3d | rs373249212 |
GWAS Ctlg | rs373249212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373249212(A;A) rs373249212(T;T) |
Alt | rs373249212(A;A) rs373249212(T;T) |
Reference | Rs373249212(G;G) |
Significance | Probable-Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15677196G>T |
CLNSRC | |
CLNACC | RCV000409760.1, |