rs80356640
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80356640(A;A) |
Make rs80356640(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17461778 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs80356640 |
dbSNP (classic) | rs80356640 |
ClinGen | rs80356640 |
ebi | rs80356640 |
HLI | rs80356640 |
Exac | rs80356640 |
Gnomad | rs80356640 |
Varsome | rs80356640 |
LitVar | rs80356640 |
Map | rs80356640 |
PheGenI | rs80356640 |
Biobank | rs80356640 |
1000 genomes | rs80356640 |
hgdp | rs80356640 |
ensembl | rs80356640 |
geneview | rs80356640 |
scholar | rs80356640 |
rs80356640 | |
pharmgkb | rs80356640 |
gwascentral | rs80356640 |
openSNP | rs80356640 |
23andMe | rs80356640 |
SNPshot | rs80356640 |
SNPdbe | rs80356640 |
MSV3d | rs80356640 |
GWAS Ctlg | rs80356640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356640(A;A) rs80356640(T;T) |
Alt | rs80356640(A;A) rs80356640(T;T) |
Reference | Rs80356640(C;C) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus |
Variation | info |
Gene | ABCC8 |
CLNDBN | Permanent neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.17483325G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020289.1, |
[PMID 17446535] Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
[PMID 17668386] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.