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. 2020 Oct 21;6(43):eabb3063. doi: 10.1126/sciadv.abb3063

Table 2. SNPs significantly (P < 5 × 10−8) associated with CSF PGRN levels.

CHR, chromosome; BP, base pair; Alt, altered allele; UTR, untranslated region; NA, not available.

CHR SNP LD
(r2)
BP
(GRCh37)
Alt Observed
MAF
Source Closest
gene
SNP
location
Regulome
DB score*
P values†
P1 P2 P3 P4
17 rs708384 1 42437682 A 0.4074 Genotyping FAM171A2 Intron (TF
binding site)
5 5.09 × 10−12 0.0002 0.0002
17 rs708383‡ 1 42437754 A 0.4074 Imputation FAM171A2 Intron 5 5.09 × 10−12 0.0002 0.0002
17 rs34603233 NA 42455022 T 0.4201 Imputation ITGA2B Intron 5 6.48 × 10−12 0.0002 0.0002 0.4561
17 rs850730 0.89 42454463 C 0.4213 Imputation ITGA2B Intron 5 1.90 × 10−11 0.0002 0.0002 0.8554
17 rs850729 0.88 42454806 T 0.4213 Imputation ITGA2B Intron NA 1.90 × 10−11 0.0002 0.0002 0.8554
17 rs850736 0.93 42446420 C 0.4225 Imputation ITGA2B NA NA 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs850734 0.91 42449025 G 0.4225 Imputation ITGA2B NA 5 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs5910 0.90 42449789 A 0.4225 Genotyping ITGA2B Synonymous 5 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs35905006 NA 42451281 C 0.4225 Imputation ITGA2B Intron 6 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs850733 0.89 42451305 A 0.4225 Imputation ITGA2B Intron NA 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs5911 0.89 42453065 C 0.4225 Imputation ITGA2B Missense 2b 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs850732 0.89 42454243 T 0.4225 Imputation ITGA2B Intron NA 2.47 × 10−11 0.0002 0.0002 0.9572
17 rs708382 0.86 42442344 C 0.4340 Genotyping FAM171A2 NA 6 2.91 × 10−11 0.0002 0.0002 0.7185
17 rs850737 0.86 42443784 C 0.4340 Imputation FAM171A2 NA 5 2.91 × 10−11 0.0002 0.0002 0.7185
17 rs850738 0.73 42434630 G 0.4317 Imputation FAM171A2 Intron NA 4.89 × 10−11 0.0002 0.0004 0.2513
17 rs11389756 NA 42448210 AG 0.4699 Imputation ITGA2B NA 6 3.62 × 10−11 0.0002 0.0022 0.6897
17 rs850731 0.71 42454270 C 0.4699 Imputation ITGA2B Intron 5 3.62 × 10−11 0.0002 0.0022 0.6897
17 rs5848 0.60 42430244 T 0.3275 Imputation GRN 3′-UTR 5 1.22 × 10−11 0.0002 0.0074 0.6925

*Lower scores indicate increasing evidence for a variant to be located in a functional region (www.regulomedb.org).

P1 = P value for GWAS; P2 = empiric P value; P3 = permutation-based corrected empiric familywise error rate; P4 = empiric P value after controlling for rs708384

‡rs708383 is in complete LD with rs708384 (r2 = 1) according to the HaploRegv4.1 online database.