Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 20
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19