rs72559723
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72559723(A;A) |
Make rs72559723(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17427124 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs72559723 |
dbSNP (classic) | rs72559723 |
ClinGen | rs72559723 |
ebi | rs72559723 |
HLI | rs72559723 |
Exac | rs72559723 |
Gnomad | rs72559723 |
Varsome | rs72559723 |
LitVar | rs72559723 |
Map | rs72559723 |
PheGenI | rs72559723 |
Biobank | rs72559723 |
1000 genomes | rs72559723 |
hgdp | rs72559723 |
ensembl | rs72559723 |
geneview | rs72559723 |
scholar | rs72559723 |
rs72559723 | |
pharmgkb | rs72559723 |
gwascentral | rs72559723 |
openSNP | rs72559723 |
23andMe | rs72559723 |
SNPshot | rs72559723 |
SNPdbe | rs72559723 |
MSV3d | rs72559723 |
GWAS Ctlg | rs72559723 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72559723(A;A) |
Alt | rs72559723(A;A) |
Reference | Rs72559723(C;C) |
Significance | Pathogenic |
Disease | Persistent hyperinsulinemic hypoglycemia of infancy not provided |
Variation | info |
Gene | ABCC8 |
CLNDBN | Persistent hyperinsulinemic hypoglycemia of infancy not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.17448671C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009655.2, RCV000077845.1, |