Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs504849
WNT5A
3 55488911 intron variant T/C;G snv 1
rs524153
WNT5A
3 55491957 upstream gene variant T/A;G snv 1
rs1554442016
TWIST1
0.882 0.080 7 19116972 missense variant T/A;C snv 4
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs104894378
TBX5
0.882 0.120 12 114385521 missense variant C/G;T snv 6
rs104894381
TBX5
0.925 0.120 12 114401830 missense variant C/T snv 5
rs746147592
SRPX2
1.000 0.160 X 100665627 missense variant G/A;C snv 5.5E-06 2
rs769269532
SOX9-AS1 ; SOX9
1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 2
rs28939086
SLC26A4
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 4
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 12
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv 8
rs121912974
POR
0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 4
rs869025322
PIGY ; PYURF
0.925 0.040 4 88521653 missense variant A/G snv 3
rs527236031
PIGT ; MIR6812
0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 5
rs774753616
PIGT ; LOC107985405
1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 3
rs587777186
PIGN
0.925 18 62146023 missense variant A/G;T snv 3
rs1057517786
PDCD10
0.925 0.400 3 167704889 stop gained G/A snv 3
rs12329305
OSR1
2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 1
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv 2
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 2
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246