Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv 4
rs1052108705
TCF19 ; POU5F1
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 3
rs587777186
PIGN
0.925 18 62146023 missense variant A/G;T snv 3
rs768746587
TCF19 ; POU5F1
6 31165136 missense variant C/T snv 8.4E-06 3
rs774753616
PIGT ; LOC107985405
1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 3
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs1234344050
COL3A1 ; LOC105373791
2 188984825 missense variant C/G snv 4.0E-06 2
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv 2
rs387906617
CREB1
2 207567506 missense variant A/G snv 2
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06 2
rs764120087
EP300
22 41117439 missense variant G/A snv 8.0E-06 2
rs12329305
OSR1
2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 1
rs142322800
FCGR3A
1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 1
rs504849
WNT5A
3 55488911 intron variant T/C;G snv 1
rs524153
WNT5A
3 55491957 upstream gene variant T/A;G snv 1
rs757956956
GPI
19 34377533 missense variant A/G snv 4.0E-06 1
rs869025322
PIGY ; PYURF
0.925 0.040 4 88521653 missense variant A/G snv 3
rs769269532
SOX9-AS1 ; SOX9
1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 2
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv 8
rs104893951
FOXC1
0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 5
rs4954218
MAP3K19
0.925 0.080 2 135045855 intron variant G/T snv 0.83 5
rs527236031
PIGT ; MIR6812
0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 5
rs587777108
ATL3 ; LOC107984336
0.925 0.080 11 63646550 missense variant T/C snv 5
rs756632799
LOC107985405 ; PIGT
0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 5
rs1554442016
TWIST1
0.882 0.080 7 19116972 missense variant T/A;C snv 4