rs771944310
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs771944310(-;-) |
Make rs771944310(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 36936663 |
Gene | HLCS |
is a | snp |
is | mentioned by |
dbSNP | rs771944310 |
dbSNP (classic) | rs771944310 |
ClinGen | rs771944310 |
ebi | rs771944310 |
HLI | rs771944310 |
Exac | rs771944310 |
Gnomad | rs771944310 |
Varsome | rs771944310 |
LitVar | rs771944310 |
Map | rs771944310 |
PheGenI | rs771944310 |
Biobank | rs771944310 |
1000 genomes | rs771944310 |
hgdp | rs771944310 |
ensembl | rs771944310 |
geneview | rs771944310 |
scholar | rs771944310 |
rs771944310 | |
pharmgkb | rs771944310 |
gwascentral | rs771944310 |
openSNP | rs771944310 |
23andMe | rs771944310 |
SNPshot | rs771944310 |
SNPdbe | rs771944310 |
MSV3d | rs771944310 |
GWAS Ctlg | rs771944310 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771944310(-;-) |
Alt | rs771944310(-;-) |
Reference | Rs771944310(C;C) |
Significance | Pathogenic |
Disease | not provided Holocarboxylase synthetase deficiency |
Variation | info |
Gene | HLCS |
CLNDBN | not provided Holocarboxylase synthetase deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.38308963delC |
CLNSRC | |
CLNACC | RCV000185969.2, RCV000410410.1, |