Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23