rs78408340

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

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GWAS Catalog Trait Associations (13)

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

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)

Allele G

OR —

p 3.0e-45

N 2,535,601

Large GWAS

multi-ancestry

Mahajan A et al. “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.” Nature Genetics 50(11):1505-1513 (2018)

Allele G

OR 1.47

p 2.0e-24

N 898,130

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.41

p 5.0e-14

N 667,504

Large GWAS

multi-ancestry

Xue A et al. “Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.” Nature Communications 9(1):2941 (2018)

Allele G

OR 1.34

p 4.0e-14

N 455,607

Large GWAS

European

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 0.26

p 1.0e-35

N 432,648

Major Consortium StudyLarge GWAS

European

Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)

Allele G

OR 0.43

p 1.0e-25

N 421,743

Large GWAS

multi-ancestry

Mahajan A et al. “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.” Nature Genetics 54(5):560-572 (2022)

Allele G

OR 0.41

p 4.0e-45

N 251,740

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 C

OR 0.26

p 1.0e-34

N 431,305

Major Consortium StudyLarge GWAS

European

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele C

OR 0.37

p 1.0e-12

N 455,017

Large GWAS

European

peptidyl-glycine alpha-amidating monooxygenase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele G

OR —

β 1.530

p 6.0e-22

N 3,301

Large GWAS

European

growth/differentiation factor 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.22

p 1.0e-19

N 47,745

Large GWAS

European

body height

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 C

OR 0.09

p 3.0e-17

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 C

OR 0.05

p 6.0e-10

N 525,444

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 C

OR 0.04

p 9.0e-12

N 394,642

Large GWAS

European

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 C

OR 0.08

p 6.0e-16

N 450,243

Major Consortium StudyLarge GWAS

European

grip strength measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.05

p 1.0e-13

N 394,642

Large GWAS

European

diabetes mellitus, family history

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele G

OR 0.27

p 8.0e-11

N 395,220

Large GWAS

European

balding measurement

Yap CX et al. “Dissection of genetic variation and evidence for pleiotropy in male pattern baldness.” Nature Communications 9(1):5407 (2018)

Allele G

OR 0.10

p 2.0e-10

N 205,327

Large GWAS

European

clinical treatment

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele G

OR 0.44

p 9.0e-10

N 456,276

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]

rs78408340

GWAS Catalog Trait Associations (13)

type 2 diabetes mellitus

diabetes mellitus

peptidyl-glycine alpha-amidating monooxygenase measurement

growth/differentiation factor 2 measurement

body height

appendicular lean mass

grip strength measurement

diabetes mellitus, family history

balding measurement

clinical treatment

About PAM

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