Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6
rs797045905
ZRANB3 ; RAB3GAP1
0.851 0.360 2 135164629 stop gained T/G snv 5
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9