Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12