Table 3 Initial list of PRS. Phenotypes are grouped according to the type of disease they relate to (e.g., all-cause, autoimmune, cancer, cardiovascular and metabolic), the source Genome Wide Association Study (GWAS) Consortium, performance metrics (AUC or an alternative if possible), number of total SNPs, the cohort used for their validation (UKB: UK Biobank), reported risk metric and the reason for filtering them out if unselected

All cause

All cause mortality (female)

PGS Catalog (PGS000318)

[24]

N/A

4,122

UKB

Hazard Ratio

Selected

Not traceable to a single discovery GWAS

All cause mortality (male)

PGS Catalog (PGS000319)

[24]

N/A

4,092

UKB

Hazard Ratio

Selected

Not traceable to a single discovery GWAS

Autoimmune

Inflammatory bowel disease

PGS Catalog (PGS000017)

[3]

0.63

69,07,112

UKB

Odds Ratio

Selected

Lupus

PGS Catalog (PGS000328)

[25]

0.78

57

UKB

Odds Ratio

Selected

Cancer

Breast cancer

PGS Catalog (PGS000015)

[3]

0.68

5,218

UKB

Odds Ratio

Selected

PGS Catalog (PGS000332)

[22]

C-index: 0.74

63,90,808

FINRISK

Hazard Ratio

Unselected

Validation cohort not UKB

Cancer-PRSweb (174.1)

[26]

0.65

11,20,410

UKB

Odds Ratio

Unselected

Lower performance

Prostate cancer

PGS Catalog (PGS000333)

[22]

C-index: 0.86

66,06,785

FINRISK

Hazard Ratio

Selected

Cancer-PRSweb (185)

[27]

0.71

11,20,596

UKB

Odds Ratio

Unselected

Lower performance

Glaucoma

PGS Catalog (PGS000137)

[28]

0.76

2,673

UKB

Odds Ratio

Selected

Testicular cancer

Cancer-PRSweb (187.2)

[29,30,31,32,33,34,35,36]

0.70

43

UKB

Odds Ratio

Selected

Chronic lymph leukaemia

Cancer-PRSweb (204.12)

[37,38,39,40,41,42,43,44]

0.67

27

UKB

Odds Ratio

Selected

Thyroid cancer

Cancer-PRSweb (193)

[44,45,46,47]

0.63

5

UKB

Odds Ratio

Selected

Glioma

Cancer-PRSweb (191.1)

[48,49,50,51,52,53]

0.62

19

UKB

Odds Ratio

Selected

Melanoma

Cancer-PRSweb (172.1)

[54,55,56,57,58,59,60]

0.62

27

UKB

Odds Ratio

Selected

Colorectal cancer

Cancer-PRSweb (153)

[61]

0.62

87

UKB

Odds Ratio

Selected

Basal cell carcinoma

Cancer-PRSweb (172.21)

[62,63,64,65,66,67,68]

0.62

24

UKB

Odds Ratio

Selected

Pancreatic cancer

Cancer-PRSweb (157)

[69,70,71,72,73]

0.58

10

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Multiple myeloma

Cancer-PRSweb (204.4)

[74,75,76,77,78,79]

0.58

21

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Uterine cancer

Cancer-PRSweb (182)

[80,81,82]

0.58

20

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Bladder cancer

Cancer-PRSweb (189.2)

[83,84,85,86,87,88,89]

0.57

15

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Squamous cell carcinoma

Cancer-PRSweb (172.22)

[90]

0.57

9

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Epithelial ovarian cancer

Cancer-PRSweb (184.11)

[91,92,93,94,95]

0.53

21

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Lung cancer

Cancer-PRSweb (165.1)

[96,97,98,99]

0.55

19

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Non-Hodgkin's lymphoma

Cancer-PRSweb (202.2)

[100,101,102,103,104]

0.55

10

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Cancer of other lymphoid, histiocytic tissue

Cancer-PRSweb (202)

[100, 101, 103, 104]

0.49

5

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Cancer of kidney, except pelvis

Cancer-PRSweb (189.11)

[105, 106]

0.52

12

UKB

Odds Ratio

Unselected

AUC < 0.60 threshold

Cardiovascular

Atrial fibrillation

PGS Catalog (PGS000016)

[3]

0.77

67,30,541

UKB

Odds Ratio

Selected

PGS Catalog (PGS000331)

[22]

C-index: 0.75

61,83,494

FINRISK

Hazard Ratio

Unselected

Lower performance; Not UKB

Coronary Artery Disease

PGS Catalog (PGS000013)

[3]

0.81

66,30,150

UKB

Odds Ratio

Selected

PGS Catalog (PGS000018)

[107]

0.79

17,45,179

UKB

Hazard Ratio

Unselected

Lower performance

PGS Catalog (PGS000296)

[108]

0.80

66,30,150

UKB

Odds Ratio

Unselected

Lower performance

PGS Catalog (PGS000329)

[22]

C-index: 0.83

64,23,165

FINRISK

Hazard Ratio

Unselected

Validation cohort not UKB

Ischaemic stroke

PGS Catalog (PGS000039)

[109]

C-index: 0.59

32,25,583

UKB

Hazard Ratio

Selected

Venous thromboembolism

PGS Catalog (PGS000043)

[110]

N/A

297

UKB

Odds Ratio

Unselected

Performance metric unavailable

HDL cholesterol

PGS Catalog (PGS000064)

[111]

N/A

120

Various biobanks

N/A

Unselected

Performance metric unavailable

LDL cholesterol

PGS Catalog (PGS000065)

[111]

N/A

103

Various biobanks

N/A

Unselected

Performance metric unavailable

Triglycerides

PGS Catalog (PGS000066)

[111]

N/A

101

Various biobanks

N/A

Unselected

Performance metric unavailable

Metabolic

Type 2 diabetes

PGS Catalog (PGS000014)

[3]

0.72

69,17,436

UKB

Odds Ratio

Selected

PGS Catalog (PGS000330)

[22]

C-index: 0.76

64,37,380

FINRISK

Hazard Ratio

Unselected

Validation cohort not UKB

Body mass index

PGS Catalog (PGS000027)

[3]

R²: 0.09

21,00,302

UKB

Odds Ratio

Selected

Low performance

Testosterone levels (female)

PGS Catalog (PGS000323)

[112]

R²: 0.18

7,168

UKB

N/A

Selected

Testosterone Levels (male)

PGS Catalog (PGS000322)

[112]

R²: 0.31

8,235

UKB

N/A

Selected