Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145013566
PNKD
2 218297998 intron variant -/C ins 5
rs397933924 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 5
rs3840870
COL1A1
17 50184820 3 prime UTR variant -/CTTG delins 13
rs71579625
SPTA1
1 158666062 intron variant -/G delins 1
rs34338164
PLEK
2 68388414 missense variant A/C snv 8.0E-03 7.8E-03 4
rs56232812 1 27859995 intergenic variant A/C snv 0.11 4
rs4805881
PEPD
19 33405526 intron variant A/C snv 0.69 3
rs17041439
SPIC
12 101479462 intron variant A/C snv 7.0E-02 2
rs3845624 1 159248476 regulatory region variant A/C snv 0.57 2
rs77940566 6 42542864 intergenic variant A/C snv 0.21 2
rs1016680 17 37514283 downstream gene variant A/C snv 0.74 1
rs10273974
ZC3HAV1
7 139050766 intron variant A/C snv 0.48 1
rs11264673
LOC101928202
1 157309332 intron variant A/C snv 0.41 1
rs113164910 6 32459228 downstream gene variant A/C snv 1
rs12130298
CD101
1 117001709 upstream gene variant A/C snv 5.0E-02 1
rs1410869
SPRR2G
1 153197120 intergenic variant A/C snv 0.44 1
rs17088512
DACH1
13 71832596 intron variant A/C snv 9.2E-02 1
rs1780007
DDR2
1 162778235 intron variant A/C snv 0.62 1
rs2340721
ATF6
1 161879595 intron variant A/C snv 0.49 1
rs2494033 1 158698252 upstream gene variant A/C snv 0.14 1
rs2684866
DDR2
1 162756491 intron variant A/C snv 0.61 1
rs35990176 21 43052008 downstream gene variant A/C snv 1
rs3747869
VSIR ; CDH23
10 71760875 missense variant A/C snv 0.88 0.90 1
rs4281320 1 26147948 regulatory region variant A/C snv 0.14 1
rs59667935
CECR2
22 17427131 intron variant A/C snv 0.15 1