rs397507176
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397507176(A;G) |
Make rs397507176(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15644824 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs397507176 |
dbSNP (classic) | rs397507176 |
ClinGen | rs397507176 |
ebi | rs397507176 |
HLI | rs397507176 |
Exac | rs397507176 |
Gnomad | rs397507176 |
Varsome | rs397507176 |
LitVar | rs397507176 |
Map | rs397507176 |
PheGenI | rs397507176 |
Biobank | rs397507176 |
1000 genomes | rs397507176 |
hgdp | rs397507176 |
ensembl | rs397507176 |
geneview | rs397507176 |
scholar | rs397507176 |
rs397507176 | |
pharmgkb | rs397507176 |
gwascentral | rs397507176 |
openSNP | rs397507176 |
23andMe | rs397507176 |
SNPshot | rs397507176 |
SNPdbe | rs397507176 |
MSV3d | rs397507176 |
GWAS Ctlg | rs397507176 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507176(G;G) |
Alt | rs397507176(G;G) |
Reference | Rs397507176(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.15686331A>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000021978.1, RCV000078083.5, |