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: rs1126757
rs1126757
IL11
3 0.882 0.120 19 55368504 synonymous variant C/G;T snv 4.1E-06; 0.48 0.010 1.000 1 2012 2012
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1143643
rs1143643
IL1B
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs12794714
rs12794714
CYP2R1
15 0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1562430
rs1562430
POU5F1B ; CASC8 ; PCAT1 ; CASC21
6 0.807 0.160 8 127375606 intron variant T/C snv 0.41 0.010 < 0.001 1 2012 2012
dbSNP: rs1800812
rs1800812
PDGFRA
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2012 2012
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: 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