Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv 8
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs748379243
ERCC8
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs897535441
ERCC8
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv 5
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs150681845
INTU
1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03 2
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1057518782
LOC105372261 ; MCOLN1
0.925 0.120 19 7526579 stop gained C/G;T snv 7
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13