Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10874746
DIPK1A
1 92858414 intron variant T/A;C snv 2
rs10908505
MEF2D
1 156498451 intron variant T/A;G 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
rs12408663
NBL1 ; MICOS10-NBL1
1 19641564 intron variant T/C snv 0.19 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
rs141942982 1 155164919 downstream gene variant G/A;T snv 2
rs1472565
CAPZB
1 19428536 intron variant T/A;C snv 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
rs17393468 1 9378481 intergenic variant T/C snv 0.14 2
rs187799739
RPRD2
1 150452900 intron variant C/A;G snv 2
rs1926872 1 184049341 upstream gene variant T/C snv 0.29 2
rs2061708
COL11A1
1 102951647 intron variant G/A;C;T snv 2
rs212526
ECE1
1 21258448 intron variant T/C snv 0.68 2
rs2154319 1 41280098 intron variant T/C snv 0.15 2
rs2292989
COL16A1 ; LOC101929444
1 31670172 non coding transcript exon variant A/G snv 0.33 2
rs2421992
DNM3
1 172272111 intron variant C/T snv 0.62 2
rs425277
PRKCZ
1 2137733 intron variant C/T snv 0.23 2
rs4601530 1 24717620 downstream gene variant C/T snv 0.31 2