rs541269678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs541269678(A;A) |
Make rs541269678(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 17407417 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs541269678 |
dbSNP (classic) | rs541269678 |
ClinGen | rs541269678 |
ebi | rs541269678 |
HLI | rs541269678 |
Exac | rs541269678 |
Gnomad | rs541269678 |
Varsome | rs541269678 |
LitVar | rs541269678 |
Map | rs541269678 |
PheGenI | rs541269678 |
Biobank | rs541269678 |
1000 genomes | rs541269678 |
hgdp | rs541269678 |
ensembl | rs541269678 |
geneview | rs541269678 |
scholar | rs541269678 |
rs541269678 | |
pharmgkb | rs541269678 |
gwascentral | rs541269678 |
openSNP | rs541269678 |
23andMe | rs541269678 |
SNPshot | rs541269678 |
SNPdbe | rs541269678 |
MSV3d | rs541269678 |
GWAS Ctlg | rs541269678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs541269678(A;A) |
Alt | rs541269678(A;A) |
Reference | Rs541269678(G;G) |
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.17428964G>A |
CLNSRC | Counsyl |
CLNACC | RCV000169265.1, |