Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14