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. Author manuscript; available in PMC: 2021 Oct 1.
Published in final edited form as: Acta Neuropathol. 2020 Aug 4;140(4):449–461. doi: 10.1007/s00401-020-02199-7

Table 3.

Genetic loci nominated from Alzheimer’s disease GWAS literature.

Variant Chr. Positiona Nearest Geneb Maj/ Min MAFc Reported OR (95%CI) for ADd

rs3818361e 1 207611623 CR1 G/A 0.278 1.20 (1.13–1.27)
rs6733839 2 127135234 BIN1 C/T 0.399 1.20 (1.17–1.23)
rs7570320f 2 233167045 INPP5D C/A 0.369 0.92 (0.87–0.97)
rs9271100g 6 32608701 HLA-DRB5/DRB1 C/T 0.273 1.11 (1.06–1.17)
rs75932628 6 41161514 TREM2 C/T 0.010 2.08 (1.73–2.49)
rs10948363h 6 47520026 CD2AP A/G 0.278 1.09 (1.06–1.12)
rs1476679i 7 100406823 NYAP1j C/T 0.323 0.92 (0.90–0.95)
rs11762262k 7 143410783 EPHA1 C/T 0.207 0.91 (0.86–0.96)
rs17057043l 8 27362793 PTK2B G/A 0.343 1.11 (1.06–1.16)
rs11136000m 8 27607002 CLU C/T 0.369 0.88 (0.85–0.90)
rs11257240n 10 11677075 ECHDC3 T/G 0.350 1.07 (1.02–1.12)
rs920573o 11 60157486 MS4A6A G/A 0.475 0.90 (0.86–0.95)
rs3851179 11 86157598 PICALM C/T 0.429 0.88 (0.86–0.90)
rs11218343 11 121564878 SORL1 T/C 0.040 0.80 (0.75–0.85)
rs17125944p 14 52933911 FERMT2 T/C 0.081 1.14 (1.09–1.18)
rs10498633q 14 92460608 SLC24A4 G/T 0.182 0.92 (0.89–0.94)
rs11854073r 15 58680796 ADAM10 G/A 0.308 0.93 (0.91–0.95)
rs3752246 19 1056493 ABCA7 C/G 0.187 1.15 (1.11–1.18)
rs7274581s 20 56443204 CASS4 T/C 0.091 0.88 (0.85–0.92)
a

GRCh38.

b

Based on position of top SNP in reference to RefSeq assembly.

c

1000 Genomes, CEU population.

d

Reported by Kunkle et al (2019).

e

proxy rs4844610 (D’=1.0),

f

proxy rs10933431 (D’=0.84),

g

proxy rs9271058 (D’=1.0),

h

proxy rs9473117 (D’=1.0),

i

proxy rs12539172 (D’=0.98),

j

Previously the ZCWPW1 locus,

k

proxy rs10808026 (D’=1.0),

l

proxy for rs73223431 (D’=1.0),

m

proxy rs9331896 (D’=1.0),

n

proxy rs7920721 (D’=0.95),

o

proxy rs7933202 (D’=0.94),

p

proxy rs17125924,

q

proxy rs12881735 (D’=1.0),

r

proxy rs593742 (D’=0.88),

s

proxy rs6024870 (D’=0.94).