rs11191548
This is a regulatory region variant variant in the CNNM2 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
essential hypertension
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 3.0e-29
N 427,704
Major Consortium StudyLarge GWAS
European
systolic blood pressure
Ehret GB et al. “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.” Nature 478(7367):103-9 (2011)
Allele T
OR 1.09
p 7.0e-26
N 69,395
Large GWAS
European
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR —
β 0.058
p 3.0e-20
N 192,763
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele T
OR 1.08
p 1.0e-17
N 150,134
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.66
p 8.0e-15
N 130,777
Large GWAS
multi-ancestry
Kato N et al. “Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.” Nature Genetics 47(11):1282-1293 (2015)
Allele T
OR 0.70
p 3.0e-9
N 99,994
Large GWAS
multi-ancestry
Newton-Cheh C et al. “Genome-wide association study identifies eight loci associated with blood pressure.” Nature Genetics 41(6):666-76 (2009)
Allele T
OR 1.16
p 7.0e-24
N 34,433
Large GWAS
multi-ancestry
Kato N et al. “Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.” Nature Genetics 43(6):531-8 (2011)
Allele T
OR 1.18
p 4.0e-17
N 19,608
Meta-analysisLarge GWAS
East Asian
hypertension
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 7.0e-22
N 608,262
Major Consortium StudyLarge GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.11
p 1.0e-12
N 50,792
Large GWAS
multi-ancestry
Jeong H et al. “Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.” Nutrients 12(7) (2020)
Allele T
OR 0.86
p 1.0e-8
N 17,736
Large GWAS
East Asian
hypertension, Antihypertensive use measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.08
p 2.0e-17
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
pulse pressure measurement
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.42
p 1.0e-12
N 130,777
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele T
OR 0.56
p 9.0e-12
N 150,134
Large GWAS
multi-ancestry
Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele T
OR 0.53
p 8.0e-11
N 74,064
Large GWAS
European
diastolic blood pressure
Kato N et al. “Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.” Nature Genetics 43(6):531-8 (2011)
Allele T
OR 0.58
p 7.0e-12
N 19,608
Meta-analysisLarge GWAS
East Asian
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele T
OR 0.47
p 1.0e-9
N 150,134
Large GWAS
multi-ancestry
gout
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.08
p 1.0e-11
N 437,979
Major Consortium StudyLarge GWAS
European
mean arterial pressure
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele T
OR 0.39
p 1.0e-10
N 130,777
Large GWAS
multi-ancestry
fat pad mass
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.02
p 5.0e-8
N 337,196
Large GWAS
European
About CNNM2
This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
View all CNNM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…