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: rs11672517
rs11672517
DUXA
2 0.925 0.120 19 57166826 intron variant G/A snv 0.24 0.700 1.000 2 2011 2017
dbSNP: rs16879765
rs16879765
SFRP4 ; EPDR1
2 0.925 0.120 7 37949493 intron variant C/T snv 0.13 0.700 1.000 2 2011 2017
dbSNP: rs2912522
rs2912522
LINC01592
2 0.925 0.120 8 69080145 intron variant G/A snv 0.73 0.700 1.000 2 2011 2017
dbSNP: rs611744
rs611744
EIF3E
2 0.925 0.120 8 108215779 intron variant A/G;T snv 0.700 1.000 2 2011 2017
dbSNP: rs7524102
rs7524102 		5 0.882 0.160 1 22371954 intergenic variant A/G snv 0.21 0.700 1.000 2 2011 2017
dbSNP: rs10276303
rs10276303
LOC105375132
1 1.000 0.120 7 3279026 intron variant C/T snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs1032466
rs1032466
ATL1
1 1.000 0.120 14 50607743 intron variant A/C snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1042704
rs1042704
MMP14
1 1.000 0.120 14 22843385 missense variant G/A;C snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs10809650
rs10809650 		2 0.925 0.120 9 1202371 intergenic variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs10866846
rs10866846
EBF2
1 1.000 0.120 8 25988159 intron variant G/A snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs12342106
rs12342106 		1 1.000 0.120 9 1201156 regulatory region variant G/A snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs1509406
rs1509406
NEDD4
1 1.000 0.120 15 55937562 intron variant A/G snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs17433710
rs17433710
DDR2
1 1.000 0.120 1 162702221 intron variant T/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs2179367
rs2179367 		2 0.925 0.120 6 149441401 regulatory region variant A/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs2306022
rs2306022
ITGA11
4 0.851 0.160 15 68335825 missense variant C/T snv 6.6E-02 5.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs2598107
rs2598107
SFRP4 ; EPDR1
2 1.000 0.120 7 37933412 intron variant C/T snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs38904
rs38904 		2 1.000 0.120 7 117252792 intergenic variant T/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs394563
rs394563
ZC3H12D
1 1.000 0.120 6 149475878 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4730775
rs4730775
WNT2
4 0.851 0.200 7 117277064 3 prime UTR variant C/T snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs4789939
rs4789939
TIMP2 ; CEP295NL
2 0.925 0.120 17 78885621 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs4932194
rs4932194 		2 0.925 0.120 15 88702008 regulatory region variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs6016142
rs6016142 		3 1.000 0.120 20 39672165 intergenic variant C/T snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs6102095
rs6102095 		1 1.000 0.120 20 40692111 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs629535
rs629535
LINC01592
1 1.000 0.120 8 69095703 intron variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs6496519
rs6496519 		1 1.000 0.120 15 88694953 intergenic variant C/T snv 0.16 0.700 1.000 1 2017 2017