Table 1 Genome-wide significant loci from GWAS performed on the PD cohorts in UKB EUR*

From: Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson’s disease

SNP-effect allele

Closest Gene

MAFa

Beta

P

Effect

V2Gb

CADDc

RDBd

ClinVare

rs35749011-A

KRTCAP2

0.015

0.55

2.3E-8

intergenic

0.15

0.64

5

NA

rs34637584-A

LRRK2

0.002

2.27

7.9E-9

missense

0.3

28.2

3a

Pathogenic

rs1474055-T

STK39

0.12

0.26

1.6E-10

intergenic

0.25

1

7

NA

rs356203-T

SNCA

0.63

−0.18

5.4E-11

intronic

0.21

6.6

7

NA

rs7155501-G

GCH1

0.44

−0.15

1.8E-8

intronic

0.16

4.4

4

NA

rs56214516-C

CRHR1

0.2

−0.26

8E-13

intronic

0.23

5.7

5

NA

rs429358-C

APOE

0.14

0.22

2.5E-9

missense

0.4

16.65

4

Pathogenic/likely pathogenic

  1. aMAF: Minimum allele frequency.
  2. bV2G score extracted from OpenTargets98, which represents a quantile rank for a given SNP, relative to all other SNPs, mapping to a gene based on the following evidence: in silico functional prediction from VEP, eQTL, pQTL, PC Hi-C, Enhancer-TSS correlation, DHS-promoter correlation, Canonical TSS.
  3. cCombined Annotation Dependent Depletion (CADD99) score >10 corresponds to the top 10% most deleterious alterations in the genome; CADD > 20 to the top 1% and CADD > 30 to the top 0.1%.
  4. dRegulomeDB (RDB100) scores:1a-1f = likely to affect binding and linked to expression of a gene target; 2a–2c = likely to affect binding; 3a–3b = less likely to affect binding; 4–7 = minimal binding evidence.
  5. eLandrum et al.101.
  6. *The top SNP in each locus is reported.