rs200327983
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs200327983(A;C) |
Make rs200327983(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15644902 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs200327983 |
dbSNP (classic) | rs200327983 |
ClinGen | rs200327983 |
ebi | rs200327983 |
HLI | rs200327983 |
Exac | rs200327983 |
Gnomad | rs200327983 |
Varsome | rs200327983 |
LitVar | rs200327983 |
Map | rs200327983 |
PheGenI | rs200327983 |
Biobank | rs200327983 |
1000 genomes | rs200327983 |
hgdp | rs200327983 |
ensembl | rs200327983 |
geneview | rs200327983 |
scholar | rs200327983 |
rs200327983 | |
pharmgkb | rs200327983 |
gwascentral | rs200327983 |
openSNP | rs200327983 |
23andMe | rs200327983 |
SNPshot | rs200327983 |
SNPdbe | rs200327983 |
MSV3d | rs200327983 |
GWAS Ctlg | rs200327983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200327983(C;C) |
Alt | rs200327983(C;C) |
Reference | Rs200327983(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.15686409A>C |
CLNSRC | ARUP BTD |
CLNACC | RCV000022033.1, RCV000278976.1, |