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: rs2192752
rs2192752
IL1R1
1 1.000 0.080 2 102152913 intron variant G/T snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs2229765
rs2229765
IGF1R
7 0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2012 2012
dbSNP: rs2248137
rs2248137
CYP24A1
5 0.827 0.160 20 54173204 intron variant C/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2296241
rs2296241
CYP24A1
12 0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 0.010 1.000 1 2012 2012
dbSNP: rs3828610
rs3828610
PDGFRB
3 0.882 0.160 5 150156062 upstream gene variant A/C snv 0.49 0.010 < 0.001 1 2012 2012
dbSNP: rs3917225
rs3917225
IL1R1
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 < 0.001 1 2012 2012
dbSNP: rs4646536
rs4646536
CYP27B1
14 0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32 0.010 1.000 1 2012 2012
dbSNP: rs4733616
rs4733616 		3 0.882 0.120 8 127649850 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs6554162
rs6554162
PDGFRA
1 1.000 0.080 4 54227788 intron variant G/A snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs75030001
rs75030001
RET
7 0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs756405938
rs756405938
PDGFRB
1 1.000 0.080 5 150135603 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs927650
rs927650
CYP24A1
9 0.763 0.240 20 54156202 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs949963
rs949963
IL1R1
3 0.925 0.160 2 102153326 intron variant C/T snv 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.050 1.000 5 2013 2018
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.030 1.000 3 2013 2019
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.030 0.667 3 2013 2019
dbSNP: rs3748093
rs3748093
BRAF
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.020 1.000 2 2013 2016
dbSNP: rs11466653
rs11466653
TLR10
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs1248131654
rs1248131654
RBMS1
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs17161747
rs17161747
BRAF
1 1.000 0.080 7 140858940 intron variant G/C snv 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs2070946
rs2070946
ITGB2 ; ITGB2-AS1
1 1.000 0.080 21 44921282 non coding transcript exon variant T/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs2107538
rs2107538
CCL5 ; LOC105371744
11 0.763 0.360 17 35880776 5 prime UTR variant C/T snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs2227485
rs2227485
IL22 ; LOC105369818
5 0.882 0.120 12 68253933 upstream gene variant G/A snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2352326
rs2352326 		1 1.000 0.080 X 91591642 intergenic variant T/C snv 0.010 1.000 1 2013 2013