Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs1189909394
KCNK4-TEX40 ; KCNK4
11 64298178 missense variant G/A;C snv 7.0E-06 5
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs1565369746
KCNK4-TEX40 ; KCNK4
11 64297507 missense variant C/A snv 5
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4
rs730882201
ARL14EP
1.000 11 30336665 missense variant G/A snv 4
rs752738546
DDX3X
1.000 X 41343802 stop gained G/A;T snv 5.6E-06 4
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05 3
rs869312681
GRIN2A
1.000 16 9763169 missense variant T/C snv 3
rs904200599
TASP1
1.000 20 13534116 missense variant G/A snv 3
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs1553763618
POLR3GL
0.925 0.040 1 145977482 splice acceptor variant G/A snv 4
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06 4
rs782661984
POLR3GL
0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05 4
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06 7
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6
rs869312741
SMG9
0.882 0.080 19 43747509 frameshift variant GG/- delins 5
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv 5