rs749271190
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs749271190(C;T) |
Make rs749271190(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 17412665 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs749271190 |
dbSNP (classic) | rs749271190 |
ClinGen | rs749271190 |
ebi | rs749271190 |
HLI | rs749271190 |
Exac | rs749271190 |
Gnomad | rs749271190 |
Varsome | rs749271190 |
LitVar | rs749271190 |
Map | rs749271190 |
PheGenI | rs749271190 |
Biobank | rs749271190 |
1000 genomes | rs749271190 |
hgdp | rs749271190 |
ensembl | rs749271190 |
geneview | rs749271190 |
scholar | rs749271190 |
rs749271190 | |
pharmgkb | rs749271190 |
gwascentral | rs749271190 |
openSNP | rs749271190 |
23andMe | rs749271190 |
SNPshot | rs749271190 |
SNPdbe | rs749271190 |
MSV3d | rs749271190 |
GWAS Ctlg | rs749271190 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749271190(A;A) rs749271190(T;T) |
Alt | rs749271190(A;A) rs749271190(T;T) |
Reference | Rs749271190(C;C) |
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.17434212C>T |
CLNSRC | |
CLNACC | RCV000410235.1, |