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Table 1 Seven candidate risk variants for LOAD

From: A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer’s disease

Position (hg19)

Gene

Ref./Alt.

Protein

dbSNP ID

No. of carriers/No. determined

LOAD

NC

12:120651694

PXN

T/C

p.Tyr487Cys

rs980452538

0/2176

0/909

8:145154709

SHARPIN

C/T

p.Gly186Arg

rs572750141

9/2172

0/916

8:145154228

SHARPIN

C/T

p.Gly292Arg

rs774802799

0/2183

0/917

19:10477232

TYK2

C/T

p.Val164Met

rs531355933

3/2181

0/916

7:148769094

ZNF786

C/T

p.Arg257His

rs771874615

0/2179

0/914

7:148767975

ZNF786

T/C

p.Tyr630Cys

rs762922242

0/2180

0/915

7:148767897

ZNF786

C/T

p.Gly656Asp

NA

0/2175

0/914

  1. NA; Not available