rs80356610
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80356610(C;C) |
Make rs80356610(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17387968 |
Gene | KCNJ11 |
is a | snp |
is | mentioned by |
dbSNP | rs80356610 |
dbSNP (classic) | rs80356610 |
ClinGen | rs80356610 |
ebi | rs80356610 |
HLI | rs80356610 |
Exac | rs80356610 |
Gnomad | rs80356610 |
Varsome | rs80356610 |
LitVar | rs80356610 |
Map | rs80356610 |
PheGenI | rs80356610 |
Biobank | rs80356610 |
1000 genomes | rs80356610 |
hgdp | rs80356610 |
ensembl | rs80356610 |
geneview | rs80356610 |
scholar | rs80356610 |
rs80356610 | |
pharmgkb | rs80356610 |
gwascentral | rs80356610 |
openSNP | rs80356610 |
23andMe | rs80356610 |
SNPshot | rs80356610 |
SNPdbe | rs80356610 |
MSV3d | rs80356610 |
GWAS Ctlg | rs80356610 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356610(C;C) |
Alt | rs80356610(C;C) |
Reference | Rs80356610(T;T) |
Significance | Pathogenic |
Disease | Transient neonatal diabetes mellitus 3 Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young |
Variation | info |
Gene | KCNJ11 |
CLNDBN | Transient neonatal diabetes mellitus 3 Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young, type 13 |
Reversed | 1 |
HGVS | NC_000011.9:g.17409515A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009211.4, RCV000020347.1, RCV000170298.4, |
[PMID 15784703] The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.