Disease: Cryptorchidism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 20
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5