Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs2277923
NKX2-5
0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 13
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1567053134
CYP11A1
0.925 0.040 15 74345160 frameshift variant AG/- del 8
rs769236847
CZ1P-ASNS ; ASNS
0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 8
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 7
rs1565307564
TMEM258 ; MYRF
0.807 0.120 11 61783599 missense variant A/G snv 7
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs143978652
MYH6
0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 6
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv 6
rs16835979
STX18-AS1
0.851 0.120 4 4633549 intron variant C/A snv 0.20 6
rs6824295
STX18-AS1
0.851 0.120 4 4612553 intron variant C/T snv 0.20 6