rs794727073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727073(A;G) |
Make rs794727073(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 5083680 |
Gene | ALG1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727073 |
dbSNP (classic) | rs794727073 |
ClinGen | rs794727073 |
ebi | rs794727073 |
HLI | rs794727073 |
Exac | rs794727073 |
Gnomad | rs794727073 |
Varsome | rs794727073 |
LitVar | rs794727073 |
Map | rs794727073 |
PheGenI | rs794727073 |
Biobank | rs794727073 |
1000 genomes | rs794727073 |
hgdp | rs794727073 |
ensembl | rs794727073 |
geneview | rs794727073 |
scholar | rs794727073 |
rs794727073 | |
pharmgkb | rs794727073 |
gwascentral | rs794727073 |
openSNP | rs794727073 |
23andMe | rs794727073 |
SNPshot | rs794727073 |
SNPdbe | rs794727073 |
MSV3d | rs794727073 |
GWAS Ctlg | rs794727073 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727073(G;G) |
Alt | rs794727073(G;G) |
Reference | Rs794727073(A;A) |
Significance | Pathogenic |
Disease | Congenital disorder of glycosylation type 1K |
Variation | info |
Gene | ALG1 |
CLNDBN | Congenital disorder of glycosylation type 1K |
Reversed | 0 |
HGVS | NC_000016.9:g.5133681A>G |
CLNSRC | |
CLNACC | RCV000174389.1, |