rs3850625

This variant is located in the CACNA1S gene.

▶

GWAS Catalog Trait Associations (17)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum creatinine amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.04
p 2.0e-45
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 1.0e-27
N 494,370
Large GWAS
multi-ancestry
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 3.0e-30
N 450,015
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 3.0e-37
N 394,642
Large GWAS
European

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele A
OR 13.92
p 5.0e-44
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele A
OR 0.00
p 1.0e-39
N 1,201,930
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele A
OR 0.00
p 2.0e-22
N 765,348
Large GWAS
multi-ancestry
Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele A
OR 0.03
p 3.0e-15
N 406,504
Large GWAS
European
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele A
OR 5.66
p 2.0e-8
N 350,514
Meta-analysisLarge GWAS
multi-ancestry
Morris AP et al. “Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.” Nature Communications 10(1):29 (2019)
Allele A
OR 0.67
p 3.0e-9
N 312,296
Large GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 3.0e-23
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

aspartate aminotransferase measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.03
p 2.0e-19
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 2.0e-14
N 493,058
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 3.0e-17
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele A
OR 6.47
p 1.0e-10
N 389,565
Large GWAS
multi-ancestry

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.03
p 3.0e-18
N 450,243
Major Consortium StudyLarge GWAS
European

aspartate aminotransferase to alanine aminotransferase ratio

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 G
OR 0.03
p 1.0e-16
N 389,192
Major Consortium StudyLarge GWAS
European

whole body water mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 4.0e-14
N 394,642
Large GWAS
European

abdominal adipose tissue measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)
Allele G
OR 0.08
p 2.0e-12
N 37,641
Large GWAS
European, East Asian, South Asian, African unspecified, NR

grip strength measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.02
p 4.0e-12
N 404,112
Large GWAS
European

lean body 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 A
OR 0.01
p 4.0e-12
N 337,739
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
11 submitters3 publications

not specified; Hypokalemic periodic paralysis, type 1; not provided; Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Congenital myopathy 18; Thyrotoxic periodic paralysis, susceptibility to, 1

View on ClinVar →

About CACNA1S

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]

View all CACNA1S 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…