Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv 7
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins 5
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 4
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs766413410
AGK
0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 4
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs786205208
NEXMIF
0.925 X 74742675 stop gained G/A snv 4
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv 4
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3