Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 4
rs561330579
CELSR2
1.000 1 109258951 missense variant C/G;T snv 7.3E-05 2
rs192669225
AMPD2
0.925 0.040 1 109628692 missense variant G/A snv 3
rs1568486679
SMARCA4
0.882 0.080 19 11021755 missense variant G/A snv 5
rs80356730
TARDBP
0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 7
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1057519090
COL4A2
0.851 0.160 13 110492105 missense variant G/A snv 7
rs730882221
TCTN1
0.925 12 110626360 splice acceptor variant A/G snv 2
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv 5
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 20
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs376621016
TBX5
0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 4
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs550492993
ST7 ; ST7-AS2
0.925 0.040 7 117130530 stop gained T/C;G snv 8.0E-06 3