Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 < 0.001 1 2019 2019
dbSNP: rs1332190
rs1332190
1 1.000 0.040 9 21438685 upstream gene variant A/G snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3764880
rs3764880
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2010 2010
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2019 2019
dbSNP: rs750403100
rs750403100
1 1.000 0.040 3 52224144 missense variant T/C snv 4.2E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs765151011
rs765151011
APP
1 1.000 0.040 21 26021880 synonymous variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2019 2019
dbSNP: rs9298814
rs9298814
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2016 2016