rs80356618
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356618(G;T) |
Make rs80356618(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17387595 |
Gene | KCNJ11 |
is a | snp |
is | mentioned by |
dbSNP | rs80356618 |
dbSNP (classic) | rs80356618 |
ClinGen | rs80356618 |
ebi | rs80356618 |
HLI | rs80356618 |
Exac | rs80356618 |
Gnomad | rs80356618 |
Varsome | rs80356618 |
LitVar | rs80356618 |
Map | rs80356618 |
PheGenI | rs80356618 |
Biobank | rs80356618 |
1000 genomes | rs80356618 |
hgdp | rs80356618 |
ensembl | rs80356618 |
geneview | rs80356618 |
scholar | rs80356618 |
rs80356618 | |
pharmgkb | rs80356618 |
gwascentral | rs80356618 |
openSNP | rs80356618 |
23andMe | rs80356618 |
SNPshot | rs80356618 |
SNPdbe | rs80356618 |
MSV3d | rs80356618 |
GWAS Ctlg | rs80356618 |
Merged from | Rs193929343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356618(A;A) rs80356618(T;T) |
Alt | rs80356618(A;A) rs80356618(T;T) |
Reference | Rs80356618(G;G) |
Significance | Pathogenic |
Disease | Diabetes mellitus Permanent neonatal diabetes mellitus |
Variation | info |
Gene | KCNJ11 |
CLNDBN | Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.17409142C>A; NC_000011.9:g.17409142C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009216.4, RCV000020352.1, RCV000020351.1, |
[PMID 16416420] Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
[PMID 16670688] KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.