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: rs13278062
rs13278062
TNFRSF10A ; LOC389641
8 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1428779969
rs1428779969
PXN
3 0.882 0.120 12 120223776 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1883965
rs1883965
MTOR
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2498801
rs2498801
AKT1 ; LOC102723342
7 0.790 0.120 14 104769221 upstream gene variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs34009635
rs34009635
MMP8
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs35866072
rs35866072
MMP8
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
AKT1
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs3740393
rs3740393
AS3MT ; BORCS7-ASMT
10 0.776 0.280 10 102876898 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs56228771
rs56228771
SGSM3 ; MRTFA
5 0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 0.010 1.000 1 2018 2018
dbSNP: rs6443624
rs6443624
PIK3CA
8 0.776 0.200 3 179179886 intron variant C/A snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs7431
rs7431
PPP3CC
3 0.882 0.120 8 22540949 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs7977932
rs7977932
LRRC43 ; IL31
10 0.763 0.320 12 122172836 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1322643228
rs1322643228
TXNRD1
6 0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1336331763
rs1336331763
SULT1A1
3 0.882 0.120 16 28606796 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs16901904
rs16901904
PCAT1 ; LOC105375751
7 0.790 0.160 8 127015257 intron variant T/C snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs377062126
rs377062126
TXNRD1
3 0.882 0.120 12 104319543 missense variant G/A snv 2.1E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs710886
rs710886
PCAT1 ; LOC105375751
9 0.763 0.160 8 127014615 intron variant C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2017 2017