rs1057516585
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057516585(A;A) |
Make rs1057516585(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 17406942 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516585 |
dbSNP (classic) | rs1057516585 |
ClinGen | rs1057516585 |
ebi | rs1057516585 |
HLI | rs1057516585 |
Exac | rs1057516585 |
Gnomad | rs1057516585 |
Varsome | rs1057516585 |
LitVar | rs1057516585 |
Map | rs1057516585 |
PheGenI | rs1057516585 |
Biobank | rs1057516585 |
1000 genomes | rs1057516585 |
hgdp | rs1057516585 |
ensembl | rs1057516585 |
geneview | rs1057516585 |
scholar | rs1057516585 |
rs1057516585 | |
pharmgkb | rs1057516585 |
gwascentral | rs1057516585 |
openSNP | rs1057516585 |
23andMe | rs1057516585 |
SNPshot | rs1057516585 |
SNPdbe | rs1057516585 |
MSV3d | rs1057516585 |
GWAS Ctlg | rs1057516585 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516585(A;A) |
Alt | rs1057516585(A;A) |
Reference | Rs1057516585(G;G) |
Significance | Probable-Pathogenic |
Disease | Persistent hyperinsulinemic hypoglycemia of infancy |
Variation | info |
Gene | ABCC8 |
CLNDBN | Persistent hyperinsulinemic hypoglycemia of infancy |
Reversed | 1 |
HGVS | NC_000011.9:g.17428489C>T |
CLNSRC | |
CLNACC | RCV000411424.1, |