Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8179096
TIMP2
0.851 0.200 17 78925567 upstream gene variant G/A;C snv 4
rs11624283 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 3
rs146753226
SIX2
0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04 3
rs17010021
LOXL3
0.882 0.200 2 74534412 missense variant T/A snv 8.2E-02 4.9E-02 3
rs2076056
JARID2
0.882 0.200 6 15487551 intron variant C/A;G;T snv 0.24 3
rs2237138
JARID2
0.882 0.200 6 15463164 intron variant T/C snv 0.22 3
rs2240307
AXIN2
0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02 3
rs227493 0.882 0.200 6 165071698 intron variant A/T snv 1.7E-02 3
rs3905385
ROR2
0.882 0.200 9 91906451 intron variant T/C snv 0.23 3
rs41268753
GRHL3
0.882 0.200 1 24342967 missense variant C/T snv 2.3E-02 2.3E-02 3
rs545809
GRHL3 ; STPG1
0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26 3
rs7205289
WWP2 ; MIR140
0.882 0.200 16 69933102 non coding transcript exon variant C/A snv 3
rs1474322770
NKX2-1 ; NKX2-1-AS1 ; SFTA3
0.827 0.240 14 36519251 missense variant G/A snv 5
rs2166975
TGFA
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 5
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv 8
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 5
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs28937575
FOXE1 ; PTCSC2
0.851 0.280 9 97854084 missense variant G/A snv 4
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 11
rs522616
MMP3
0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 10
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9