Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs1555174708
CCDC65
0.925 12 48916993 frameshift variant A/- del 4