rs374141881
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs374141881(A;A) |
Make rs374141881(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15645093 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs374141881 |
dbSNP (classic) | rs374141881 |
ClinGen | rs374141881 |
ebi | rs374141881 |
HLI | rs374141881 |
Exac | rs374141881 |
Gnomad | rs374141881 |
Varsome | rs374141881 |
LitVar | rs374141881 |
Map | rs374141881 |
PheGenI | rs374141881 |
Biobank | rs374141881 |
1000 genomes | rs374141881 |
hgdp | rs374141881 |
ensembl | rs374141881 |
geneview | rs374141881 |
scholar | rs374141881 |
rs374141881 | |
pharmgkb | rs374141881 |
gwascentral | rs374141881 |
openSNP | rs374141881 |
23andMe | rs374141881 |
SNPshot | rs374141881 |
SNPdbe | rs374141881 |
MSV3d | rs374141881 |
GWAS Ctlg | rs374141881 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374141881(A;A) |
Alt | rs374141881(A;A) |
Reference | Rs374141881(G;G) |
Significance | Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15686600G>A |
CLNSRC | ARUP BTD |
CLNACC | RCV000032020.1, |