Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 12