Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs1057518782
LOC105372261 ; MCOLN1
0.925 0.120 19 7526579 stop gained C/G;T snv 7
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 4
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 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
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1426488816
PLAA
0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 9
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs150681845
INTU
1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03 2
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs372392424
PIGG
0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 8
rs550423482
PNPO
0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 6
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5