Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs886041185
VPS13B
0.925 0.320 8 99835295 frameshift variant -/A delins 4
rs120074152
VPS13B
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 3
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs1553553086
FARSB
0.827 0.280 2 222623699 missense variant C/T snv 9
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 8
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs878855327
ANKRD11
0.925 0.280 16 89279750 frameshift variant G/-;GG delins 5
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins 4
rs1554237658
ARID1B
0.925 0.280 6 157206917 stop gained C/T snv 3
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv 3
rs587784570
ZEB2
0.925 0.280 2 144401292 stop gained G/A;C snv 4.0E-06 3
rs886039477
ANKRD11
0.925 0.280 16 89282771 frameshift variant TT/- delins 3
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 19
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17