Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs150681845
INTU
1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03 2
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv 8
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
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
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs869025318
UNC80
0.925 0.160 2 209820379 frameshift variant A/- delins 4
rs869025316
UNC80
0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05 4
rs869025317
UNC80
0.925 0.160 2 209959707 missense variant G/C snv 4
rs869025319
UNC80
0.925 0.160 2 209967586 stop gained T/A snv 4
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1426488816
PLAA
0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 9
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs757744435
NPR2
1.000 0.080 9 35794009 missense variant A/G;T snv 4
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 4
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33