rs41282930
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41282930(C;C) |
Make rs41282930(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17386938 |
Gene | KCNJ11 |
is a | snp |
is | mentioned by |
dbSNP | rs41282930 |
dbSNP (classic) | rs41282930 |
ClinGen | rs41282930 |
ebi | rs41282930 |
HLI | rs41282930 |
Exac | rs41282930 |
Gnomad | rs41282930 |
Varsome | rs41282930 |
LitVar | rs41282930 |
Map | rs41282930 |
PheGenI | rs41282930 |
Biobank | rs41282930 |
1000 genomes | rs41282930 |
hgdp | rs41282930 |
ensembl | rs41282930 |
geneview | rs41282930 |
scholar | rs41282930 |
rs41282930 | |
pharmgkb | rs41282930 |
gwascentral | rs41282930 |
openSNP | rs41282930 |
23andMe | rs41282930 |
SNPshot | rs41282930 |
SNPdbe | rs41282930 |
MSV3d | rs41282930 |
GWAS Ctlg | rs41282930 |
Max Magnitude | 0 |
[PMID 25247988] Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study
ClinVar | |
---|---|
Risk | rs41282930(A;A) rs41282930(C;C) |
Alt | rs41282930(A;A) rs41282930(C;C) |
Reference | Rs41282930(G;G) |
Significance | Probable-non-pathogenic |
Disease | Neonatal diabetes mellitus not specified Transient Neonatal Diabetes Maturity-onset diabetes of the young Hyperinsulinism Monogenic diabetes |
Variation | info |
Gene | KCNJ11 |
CLNDBN | Neonatal diabetes mellitus not specified Transient Neonatal Diabetes, Dominant Maturity-onset diabetes of the young Hyperinsulinism, Dominant/Recessive Monogenic diabetes |
Reversed | 0 |
HGVS | NC_000011.9:g.17408485G>C |
CLNSRC | ClinVar University of Chicago LabCorp |
CLNACC | RCV000030102.1, RCV000146102.2, RCV000284629.1, RCV000342808.1, RCV000395172.1, RCV000445546.1, |