Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21