rs786204542
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACC;ACC) | 0 | common in clinvar |
Make rs786204542(ACC;CAGCCAGGAACTG) |
Make rs786204542(CAGCCAGGAACTG;CAGCCAGGAACTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 17406924 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs786204542 |
dbSNP (classic) | rs786204542 |
ClinGen | rs786204542 |
ebi | rs786204542 |
HLI | rs786204542 |
Exac | rs786204542 |
Gnomad | rs786204542 |
Varsome | rs786204542 |
LitVar | rs786204542 |
Map | rs786204542 |
PheGenI | rs786204542 |
Biobank | rs786204542 |
1000 genomes | rs786204542 |
hgdp | rs786204542 |
ensembl | rs786204542 |
geneview | rs786204542 |
scholar | rs786204542 |
rs786204542 | |
pharmgkb | rs786204542 |
gwascentral | rs786204542 |
openSNP | rs786204542 |
23andMe | rs786204542 |
SNPshot | rs786204542 |
SNPdbe | rs786204542 |
MSV3d | rs786204542 |
GWAS Ctlg | rs786204542 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204542(CAGCCAGGAACTG;CAGCCAGGAACTG) |
Alt | rs786204542(CAGCCAGGAACTG;CAGCCAGGAACTG) |
Reference | Rs786204542(ACC;ACC) |
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.17428471_17428473delGGTinsCAGTTCCTGGCTG |
CLNSRC | Counsyl |
CLNACC | RCV000169253.1, |