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. 2021 Apr 1;13:72. doi: 10.1186/s13195-021-00808-5

Table 3.

Sample sizes, minor allele frequency, and imputation quality for the identified variants. MAF minor allele frequency, R-square (Rsq) Imputation quality

Gene(s) RS id Consequence SNP (hg19) Discovery Replication
N MAF N MAF Rsq
KIF21B rs2297911 synonymous 1:200959302:G:A 11,006 0.17391 21,631 0.1769 1
USH2A rs111033333 missense 1:216270469:G:A 11,126 0.00085 19,544 0.00132 0.81
RAB10 rs149622307 synonymous 2:26332640:T:C 11,057 0.00045 9833 0.00076 0.85
TREM2 rs75932628 missense 6:41129252:C:T 11,076 0.00591 21,176 0.00606 0.93
PILRA rs2405442 synonymous 7:99971313:T:C 11,022 0.29836 21,631 0.30567 0.94
MS4A6A rs12453 synonymous 11:59945745:T:C 11,114 0.3941 21,481 0.39015 0.99
RIN3 rs150221413 missense 14:93022240:G:T 11,020 0.00082 17,652 0.00131 0.8
TAOK2 rs4077410 synonymous 16:29998200:A:G 11,063 0.47966 21,631 0.48195 0.94
NSF/MAPT/ KANSL1 rs199533 synonymous 17:44828931:G:A 11,094 0.20367 21,631 0.19931 0.99
ABCA7 rs547447016 frameshift 19:1047507:AGGAGCAG:A 11,006 0.00313 18,356 0.00311 0.88