Source: ALL
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: rs12230170
rs12230170 		1 1.000 0.040 12 128762838 intergenic variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1245342105
rs1245342105
SPTBN1
2 1.000 0.040 2 54622367 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1255998
rs1255998
ESR2
6 0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030
ESR2
6 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1264499143
rs1264499143
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.040 16 681593 missense variant G/A snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs13133980
rs13133980
APBB2
1 1.000 0.040 4 41000929 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1329650
rs1329650
HECTD2-AS1
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1372439127
rs1372439127
GRN
3 0.925 0.080 17 44352420 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs139650807
rs139650807
LRP10
3 0.925 0.080 14 22875867 missense variant T/A;C snv 6.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs1427575965
rs1427575965
TIA1 ; C2orf42
3 0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs149969998
rs149969998 		1 1.000 0.040 17 13692262 intergenic variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs150418526
rs150418526 		1 1.000 0.040 17 38697587 upstream gene variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs150616616
rs150616616 		1 1.000 0.040 5 121366663 downstream gene variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs150639459
rs150639459
PSD3
1 1.000 0.040 8 18947176 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs150734585
rs150734585
CDH4
1 1.000 0.040 20 61333207 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs150828104
rs150828104 		1 1.000 0.040 12 116337891 regulatory region variant TTTTGTTTTG/-;TTTTG;TTTTGTTTTGTTTTG;TTTTGTTTTGTTTTGTTTTG delins 0.700 1.000 1 2015 2015
dbSNP: rs1554948
rs1554948
TNK1
2 0.925 0.080 17 7383007 synonymous variant T/A;C snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016