Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97