Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 16
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 15