rs773398782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773398782(C;T) |
Make rs773398782(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 36765148 |
Gene | HLCS |
is a | snp |
is | mentioned by |
dbSNP | rs773398782 |
dbSNP (classic) | rs773398782 |
ClinGen | rs773398782 |
ebi | rs773398782 |
HLI | rs773398782 |
Exac | rs773398782 |
Gnomad | rs773398782 |
Varsome | rs773398782 |
LitVar | rs773398782 |
Map | rs773398782 |
PheGenI | rs773398782 |
Biobank | rs773398782 |
1000 genomes | rs773398782 |
hgdp | rs773398782 |
ensembl | rs773398782 |
geneview | rs773398782 |
scholar | rs773398782 |
rs773398782 | |
pharmgkb | rs773398782 |
gwascentral | rs773398782 |
openSNP | rs773398782 |
23andMe | rs773398782 |
SNPshot | rs773398782 |
SNPdbe | rs773398782 |
MSV3d | rs773398782 |
GWAS Ctlg | rs773398782 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773398782(T;T) |
Alt | rs773398782(T;T) |
Reference | Rs773398782(C;C) |
Significance | Probable-Pathogenic |
Disease | Holocarboxylase synthetase deficiency |
Variation | info |
Gene | HLCS |
CLNDBN | Holocarboxylase synthetase deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.38137449C>T |
CLNSRC | |
CLNACC | RCV000492067.1, |