rs587783006
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | Carrier of a biotinidase deficiency mutation |
Make rs587783006(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 15644754 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs587783006 |
dbSNP (classic) | rs587783006 |
ClinGen | rs587783006 |
ebi | rs587783006 |
HLI | rs587783006 |
Exac | rs587783006 |
Gnomad | rs587783006 |
Varsome | rs587783006 |
LitVar | rs587783006 |
Map | rs587783006 |
PheGenI | rs587783006 |
Biobank | rs587783006 |
1000 genomes | rs587783006 |
hgdp | rs587783006 |
ensembl | rs587783006 |
geneview | rs587783006 |
scholar | rs587783006 |
rs587783006 | |
pharmgkb | rs587783006 |
gwascentral | rs587783006 |
openSNP | rs587783006 |
23andMe | rs587783006 |
SNPshot | rs587783006 |
SNPdbe | rs587783006 |
MSV3d | rs587783006 |
GWAS Ctlg | rs587783006 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs587783006(C;C) |
Alt | rs587783006(C;C) |
Reference | Rs587783006(A;A) |
Significance | Pathogenic |
Disease | Biotinidase deficiency not provided |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.15686261A>C |
CLNSRC | |
CLNACC | RCV000144061.1, RCV000494587.1, |