Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv 7
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs886041045
SMARCA2
1.000 0.280 9 2086854 missense variant A/G snv 5
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5