rs2116830
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
Make rs2116830(A;A) |
Make rs2116830(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 76886778 |
Gene | KCNMA1, KCNMA1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs2116830 |
dbSNP (classic) | rs2116830 |
ClinGen | rs2116830 |
ebi | rs2116830 |
HLI | rs2116830 |
Exac | rs2116830 |
Gnomad | rs2116830 |
Varsome | rs2116830 |
LitVar | rs2116830 |
Map | rs2116830 |
PheGenI | rs2116830 |
Biobank | rs2116830 |
1000 genomes | rs2116830 |
hgdp | rs2116830 |
ensembl | rs2116830 |
geneview | rs2116830 |
scholar | rs2116830 |
rs2116830 | |
pharmgkb | rs2116830 |
gwascentral | rs2116830 |
openSNP | rs2116830 |
23andMe | rs2116830 |
SNPshot | rs2116830 |
SNPdbe | rs2116830 |
MSV3d | rs2116830 |
GWAS Ctlg | rs2116830 |
GMAF | 0.09504 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 21708048] |
Trait | |
Title | Genome Wide Association Study Identifies KCNMA1 Contributing to Human Obesity. |
Risk Allele | G |
P-val | 3E-10 |
Odds Ratio | 1.2600 [1.12-1.41] |
ClinVar | |
---|---|
Risk | rs2116830(A;A) |
Alt | rs2116830(A;A) |
Reference | Rs2116830(C;C) |
Significance | Probable-non-pathogenic |
Disease | Generalized epilepsy and paroxysmal dyskinesia |
Variation | info |
Gene | LOC101929328 KCNMA1-AS1 KCNMA1 |
CLNDBN | Generalized epilepsy and paroxysmal dyskinesia |
Reversed | 1 |
HGVS | NC_000010.10:g.78646536G>T |
CLNSRC | |
CLNACC | RCV000322883.1, |