Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv 8
rs28937575
FOXE1 ; PTCSC2
0.851 0.280 9 97854084 missense variant G/A snv 4
rs560426
ABCA4
0.851 0.200 1 94087882 intron variant C/T snv 0.53 5
rs3905385
ROR2
0.882 0.200 9 91906451 intron variant T/C snv 0.23 3
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs4783099
CRISPLD2
0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 6
rs2326398
CRISPLD2
0.827 0.200 16 84869111 intron variant A/G snv 0.37 5
rs1546124
CRISPLD2
0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 7
rs8179096
TIMP2
0.851 0.200 17 78925567 upstream gene variant G/A;C snv 4
rs17010021
LOXL3
0.882 0.200 2 74534412 missense variant T/A snv 8.2E-02 4.9E-02 3
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 9
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9
rs2166975
TGFA
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23 5
rs3771523
TGFA
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14 5
rs11466285
TGFA
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 5
rs7205289
WWP2 ; MIR140
0.882 0.200 16 69933102 non coding transcript exon variant C/A snv 3
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 19
rs2240307
AXIN2
0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02 3
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv 5
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 11
rs10130587
BMP4
0.851 0.200 14 53952392 intron variant G/C snv 0.45 5
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5