Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22
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
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26