rs201604102
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201604102(C;G) |
Make rs201604102(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15645311 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs201604102 |
dbSNP (classic) | rs201604102 |
ClinGen | rs201604102 |
ebi | rs201604102 |
HLI | rs201604102 |
Exac | rs201604102 |
Gnomad | rs201604102 |
Varsome | rs201604102 |
LitVar | rs201604102 |
Map | rs201604102 |
PheGenI | rs201604102 |
Biobank | rs201604102 |
1000 genomes | rs201604102 |
hgdp | rs201604102 |
ensembl | rs201604102 |
geneview | rs201604102 |
scholar | rs201604102 |
rs201604102 | |
pharmgkb | rs201604102 |
gwascentral | rs201604102 |
openSNP | rs201604102 |
23andMe | rs201604102 |
SNPshot | rs201604102 |
SNPdbe | rs201604102 |
MSV3d | rs201604102 |
GWAS Ctlg | rs201604102 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201604102(G;G) |
Alt | rs201604102(G;G) |
Reference | Rs201604102(C;C) |
Significance | Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15686818C>G |
CLNSRC | ARUP BTD |
CLNACC | RCV000022015.1, |