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: rs7831697
rs7831697 		14 0.724 0.240 8 137124061 regulatory region variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs953387
rs953387 		1 1.000 0.120 2 136149600 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs77150043
rs77150043
ADCY7
14 0.724 0.240 16 50270338 intron variant C/T snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs2066363
rs2066363
ADGRL2
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs11225055
rs11225055
ANGPTL5
1 1.000 0.120 11 101900702 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs7100025
rs7100025
ANKRD30A ; LINC00993
14 0.724 0.240 10 37303610 intron variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
ANKRD55
16 0.716 0.240 5 56148856 intron variant G/A snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs36001488
rs36001488
ATG16L1
14 0.724 0.240 2 233276621 intron variant C/T snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs2372536
rs2372536
ATIC
5 0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25 0.010 1.000 1 2015 2015
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs12928404
rs12928404
ATXN2L
15 0.724 0.240 16 28835925 splice region variant T/C snv 0.44 0.45 0.700 1.000 1 2015 2015
dbSNP: rs2294369
rs2294369
CACNA1I
1 1.000 0.120 22 39679395 missense variant G/A snv 0.23 0.17 0.700 1.000 1 2014 2014
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10956445
rs10956445
CCDC26
1 1.000 0.120 8 128775730 intron variant T/C snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs763361
rs763361
CD226
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2015 2015
dbSNP: rs12708716
rs12708716
CLEC16A
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs12917716
rs12917716
CLEC16A
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs6498169
rs6498169
CLEC16A
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2015 2015
dbSNP: rs6689858
rs6689858
CRB1
14 0.724 0.240 1 197406337 intron variant T/C snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs4395908
rs4395908
CSMD1
1 1.000 0.120 8 4168122 intron variant C/A;G snv 0.700 1.000 1 2014 2014