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: rs2234246
rs2234246
5 0.827 0.240 6 41276002 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4755453
rs4755453
2 0.925 0.080 11 36509094 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs497116
rs497116
2 0.925 0.080 11 104892390 stop lost A/G snv 4.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs61330082
rs61330082
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs9770242
rs9770242
5 0.851 0.240 7 106285885 5 prime UTR variant C/A snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs11137480
rs11137480
3 0.882 0.120 9 88989662 upstream gene variant G/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2013 2013
dbSNP: rs41279766
rs41279766
2 0.925 0.080 2 118970217 missense variant C/G;T snv 2.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013
dbSNP: rs7022797
rs7022797
3 0.882 0.120 9 88989548 upstream gene variant T/G snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2009 2014
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2012 2014
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.020 1.000 2 2001 2014
dbSNP: rs11216153
rs11216153
2 0.925 0.080 11 116834384 upstream gene variant G/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2014 2014
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1153879
rs1153879
2 0.925 0.080 3 136392816 intron variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1799946
rs1799946
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2014 2014
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2563298
rs2563298
4 0.851 0.200 5 140631730 3 prime UTR variant C/A snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2664581
rs2664581
PI3
3 0.882 0.120 20 45175881 missense variant A/C snv 0.16 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014