rs35658696

This is a protein-altering variant in the PAM gene.

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GWAS Catalog Trait Associations (10)

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

peptidyl-glycine alpha-amidating monooxygenase measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 1.34
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.970
p 2.0e-67
N 3,301
Large GWAS
European

diabetes mellitus

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 A
OR 0.13
p 5.0e-27
N 315,668
Major Consortium StudyLarge GWAS
European

body height

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 A
OR 0.02
p 2.0e-16
N 405,540
Large GWAS
European

diabetic retinopathy

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 A
OR 0.16
p 1.0e-15
N 611,288
Major Consortium StudyLarge GWAS
multi-ancestry

intelligence

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 A
OR 0.04
p 1.0e-12
N 254,641
Large GWAS
European

Insulinogenic index measurement

Huyghe JR et al. “Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.” Nature Genetics 45(2):197-201 (2013)
Allele G
OR 0.15
p 2.0e-8
N 8,229
Large GWAS
European

diabetes mellitus, Drugs used in diabetes 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 A
OR 0.14
p 3.0e-17
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele A
OR 0.08
p 2.0e-11
N 63,706
Major Consortium StudyLarge GWAS
European, NR

type 2 diabetes mellitus

Mahajan A et al. “Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.” Nature Genetics 50(4):559-571 (2018)
Allele G
OR 1.13
p 4.0e-13
N 298,957
Large GWAS
European

About PAM

This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

View all PAM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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