rs80356622
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356622(C;C) |
Make rs80356622(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17387582 |
Gene | KCNJ11 |
is a | snp |
is | mentioned by |
dbSNP | rs80356622 |
dbSNP (classic) | rs80356622 |
ClinGen | rs80356622 |
ebi | rs80356622 |
HLI | rs80356622 |
Exac | rs80356622 |
Gnomad | rs80356622 |
Varsome | rs80356622 |
LitVar | rs80356622 |
Map | rs80356622 |
PheGenI | rs80356622 |
Biobank | rs80356622 |
1000 genomes | rs80356622 |
hgdp | rs80356622 |
ensembl | rs80356622 |
geneview | rs80356622 |
scholar | rs80356622 |
rs80356622 | |
pharmgkb | rs80356622 |
gwascentral | rs80356622 |
openSNP | rs80356622 |
23andMe | rs80356622 |
SNPshot | rs80356622 |
SNPdbe | rs80356622 |
MSV3d | rs80356622 |
GWAS Ctlg | rs80356622 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356622(C;C) |
Alt | rs80356622(C;C) |
Reference | Rs80356622(G;G) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus |
Variation | info |
Gene | KCNJ11 |
CLNDBN | Permanent neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.17409129C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009207.4, |
[PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.