Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11205303
MTMR11
0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 9
rs17391694 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 6
rs2284746
MFAP2
1 16980180 intron variant C/A;G snv 6
rs900
TGFB2-OT1 ; TGFB2
0.882 0.040 1 218441563 3 prime UTR variant A/T snv 0.33 6
rs11205277 1.000 0.120 1 149920979 upstream gene variant A/C;G;T snv 5
rs2274432
TSEN15
1 184051811 missense variant G/A snv 0.33 0.28 5
rs1046934
TSEN15
1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 4
rs3738814
ATP13A2
1 17005181 intron variant A/G snv 0.52 3
rs3814333
COLGALT2
1 184037985 upstream gene variant C/T snv 0.29 3
rs6684205
TGFB2
1 218436360 intron variant A/G;T snv 3
rs7534091 1 118321993 intergenic variant A/G snv 0.23 3
rs10799445 1 227724182 upstream gene variant A/C snv 0.27 2
rs10863936
DTL
1 212064456 intron variant G/A snv 0.59 2
rs10874746
DIPK1A
1 92858414 intron variant T/A;C snv 2
rs11118346 1 219570377 intergenic variant C/T snv 0.38 2
rs11209718
SCMH1
1 41223266 intron variant C/G;T snv 2
rs11809207
CATSPER4
1 26194649 intron variant G/A snv 0.19 2
rs12075079
DNM3
1 172250855 intron variant A/G snv 0.16 2
rs12145922
PKN2-AS1
1 88680551 intron variant C/A snv 0.57 2
rs12735613 1 118341350 intergenic variant G/A snv 0.22 2
rs1325598
PAPPA2
1 176823113 intron variant A/G snv 0.62 2
rs1390401
ZNF678
1 227610249 intron variant A/G snv 0.24 2
rs17038182 1 118325782 intergenic variant G/C snv 0.25 2
rs17346452
DNM3
1 172084147 intron variant T/C snv 0.19 2
rs1738475 1 23210398 regulatory region variant C/G snv 0.49 2