Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs3782886
BRAP
0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 22
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 21
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs587781858
TP53
0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 12
rs397515453
PIK3R1
0.752 0.440 5 68296301 missense variant C/T snv 11
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 10
rs1566902569
FBN1
0.882 0.160 15 48460299 missense variant C/A snv 9
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs1131691804
FBN1
0.807 0.200 15 48463123 missense variant G/A snv 8
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 7
rs1555545033
THRA
0.807 0.160 17 40088306 missense variant C/T snv 7
rs2076738
TG
0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 6
rs587779351
XRCC4
0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 6
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 5
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5