rs72559713
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs72559713(A;G) |
Make rs72559713(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 17393109 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs72559713 |
dbSNP (classic) | rs72559713 |
ClinGen | rs72559713 |
ebi | rs72559713 |
HLI | rs72559713 |
Exac | rs72559713 |
Gnomad | rs72559713 |
Varsome | rs72559713 |
LitVar | rs72559713 |
Map | rs72559713 |
PheGenI | rs72559713 |
Biobank | rs72559713 |
1000 genomes | rs72559713 |
hgdp | rs72559713 |
ensembl | rs72559713 |
geneview | rs72559713 |
scholar | rs72559713 |
rs72559713 | |
pharmgkb | rs72559713 |
gwascentral | rs72559713 |
openSNP | rs72559713 |
23andMe | rs72559713 |
SNPshot | rs72559713 |
SNPdbe | rs72559713 |
MSV3d | rs72559713 |
GWAS Ctlg | rs72559713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72559713(G;G) |
Alt | rs72559713(G;G) |
Reference | Rs72559713(A;A) |
Significance | Probable-Pathogenic |
Disease | Persistent hyperinsulinemic hypoglycemia of infancy |
Variation | info |
Gene | ABCC8 |
CLNDBN | Persistent hyperinsulinemic hypoglycemia of infancy |
Reversed | 0 |
HGVS | NC_000011.9:g.17414656A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169185.1, |