Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
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
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 10
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5