Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12508721
IL21-AS1
0.742 0.360 4 122623509 intron variant C/T snv 0.24 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs7977932
LRRC43 ; IL31
0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs4758680
LRRC43
0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8
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
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 7
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
rs370681
AXIN1
0.807 0.200 16 342461 intron variant C/T snv 0.48 6
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs2274911
GPRC6A
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 6
rs2055979
IL21-AS1 ; IL21
0.827 0.320 4 122619586 intron variant C/A snv 0.23 6
rs1565573786
LOC105369759 ; DHH
0.807 0.160 12 49091165 stop gained G/C;T snv 6
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv 6
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs554416372
WT1
0.827 0.160 11 32396397 missense variant C/A;G;T snv 2.0E-05; 8.0E-06; 9.6E-05 5
rs2069521 0.851 0.240 15 74746626 upstream gene variant G/A snv 4.9E-02 4
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4