rs767533946
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs767533946(-;A) |
Make rs767533946(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 36765158 |
Gene | HLCS |
is a | snp |
is | mentioned by |
dbSNP | rs767533946 |
dbSNP (classic) | rs767533946 |
ClinGen | rs767533946 |
ebi | rs767533946 |
HLI | rs767533946 |
Exac | rs767533946 |
Gnomad | rs767533946 |
Varsome | rs767533946 |
LitVar | rs767533946 |
Map | rs767533946 |
PheGenI | rs767533946 |
Biobank | rs767533946 |
1000 genomes | rs767533946 |
hgdp | rs767533946 |
ensembl | rs767533946 |
geneview | rs767533946 |
scholar | rs767533946 |
rs767533946 | |
pharmgkb | rs767533946 |
gwascentral | rs767533946 |
openSNP | rs767533946 |
23andMe | rs767533946 |
SNPshot | rs767533946 |
SNPdbe | rs767533946 |
MSV3d | rs767533946 |
GWAS Ctlg | rs767533946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767533946(A;A) |
Alt | rs767533946(A;A) |
Reference | Rs767533946(-;-) |
Significance | Probable-Pathogenic |
Disease | Holocarboxylase synthetase deficiency |
Variation | info |
Gene | HLCS |
CLNDBN | Holocarboxylase synthetase deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.38137460dupA |
CLNSRC | |
CLNACC | RCV000411747.1, |