rs377651057
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs377651057(A;A) |
Make rs377651057(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15644791 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs377651057 |
dbSNP (classic) | rs377651057 |
ClinGen | rs377651057 |
ebi | rs377651057 |
HLI | rs377651057 |
Exac | rs377651057 |
Gnomad | rs377651057 |
Varsome | rs377651057 |
LitVar | rs377651057 |
Map | rs377651057 |
PheGenI | rs377651057 |
Biobank | rs377651057 |
1000 genomes | rs377651057 |
hgdp | rs377651057 |
ensembl | rs377651057 |
geneview | rs377651057 |
scholar | rs377651057 |
rs377651057 | |
pharmgkb | rs377651057 |
gwascentral | rs377651057 |
openSNP | rs377651057 |
23andMe | rs377651057 |
SNPshot | rs377651057 |
SNPdbe | rs377651057 |
MSV3d | rs377651057 |
GWAS Ctlg | rs377651057 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377651057(A;A) |
Alt | rs377651057(A;A) |
Reference | Rs377651057(G;G) |
Significance | Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15686298G>A |
CLNSRC | ARUP BTD |
CLNACC | RCV000021977.1, |