rs376663459
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376663459(A;A) |
Make rs376663459(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 70514350 |
Gene | COG4 |
is a | snp |
is | mentioned by |
dbSNP | rs376663459 |
dbSNP (classic) | rs376663459 |
ClinGen | rs376663459 |
ebi | rs376663459 |
HLI | rs376663459 |
Exac | rs376663459 |
Gnomad | rs376663459 |
Varsome | rs376663459 |
LitVar | rs376663459 |
Map | rs376663459 |
PheGenI | rs376663459 |
Biobank | rs376663459 |
1000 genomes | rs376663459 |
hgdp | rs376663459 |
ensembl | rs376663459 |
geneview | rs376663459 |
scholar | rs376663459 |
rs376663459 | |
pharmgkb | rs376663459 |
gwascentral | rs376663459 |
openSNP | rs376663459 |
23andMe | rs376663459 |
SNPshot | rs376663459 |
SNPdbe | rs376663459 |
MSV3d | rs376663459 |
GWAS Ctlg | rs376663459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376663459(A;A) |
Alt | rs376663459(A;A) |
Reference | Rs376663459(G;G) |
Significance | Probable-Pathogenic |
Disease | Congenital disorder of glycosylation type 2J |
Variation | info |
Gene | COG4 |
CLNDBN | Congenital disorder of glycosylation type 2J |
Reversed | 0 |
HGVS | NC_000016.9:g.70548253G>A |
CLNSRC | |
CLNACC | RCV000190572.1, |