rs28936370
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28936370(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17396980 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs28936370 |
dbSNP (classic) | rs28936370 |
ClinGen | rs28936370 |
ebi | rs28936370 |
HLI | rs28936370 |
Exac | rs28936370 |
Gnomad | rs28936370 |
Varsome | rs28936370 |
LitVar | rs28936370 |
Map | rs28936370 |
PheGenI | rs28936370 |
Biobank | rs28936370 |
1000 genomes | rs28936370 |
hgdp | rs28936370 |
ensembl | rs28936370 |
geneview | rs28936370 |
scholar | rs28936370 |
rs28936370 | |
pharmgkb | rs28936370 |
gwascentral | rs28936370 |
openSNP | rs28936370 |
23andMe | rs28936370 |
SNPshot | rs28936370 |
SNPdbe | rs28936370 |
MSV3d | rs28936370 |
GWAS Ctlg | rs28936370 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28936370(A;A) Rs28936370(C;C) |
Alt | rs28936370(A;A) Rs28936370(C;C) |
Reference | Rs28936370(G;G) |
Significance | Pathogenic |
Disease | Persistent hyperinsulinemic hypoglycemia of infancy Leucine-induced hypoglycemia |
Variation | info |
Gene | ABCC8 |
CLNDBN | Persistent hyperinsulinemic hypoglycemia of infancy Leucine-induced hypoglycemia |
Reversed | 1 |
HGVS | NC_000011.9:g.17418527C>G; NC_000011.9:g.17418527C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009662.2, RCV000009666.3, |