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rs2116830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs2116830(A;A)
Make rs2116830(A;C)
ReferenceGRCh38 38.1/142
Chromosome10
Position76886778
GeneKCNMA1, KCNMA1-AS1
is asnp
is mentioned by
dbSNPrs2116830
dbSNP (old)rs2116830
ClinGenrs2116830
ebirs2116830
HLIrs2116830
Exacrs2116830
Gnomadrs2116830
Varsomers2116830
Maprs2116830
PheGenIrs2116830
Biobankrs2116830
1000 genomesrs2116830
hgdprs2116830
ensemblrs2116830
gopubmedrs2116830
geneviewrs2116830
scholarrs2116830
googlers2116830
pharmgkbrs2116830
gwascentralrs2116830
openSNPrs2116830
23andMers2116830
23andMe allrs2116830
SNP Nexus

SNPshotrs2116830
SNPdbers2116830
MSV3drs2116830
GWAS Ctlgrs2116830
GMAF0.09504
Max Magnitude0
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 21708048OA-icon.png]
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,