Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs387906760
STAT1
0.790 0.200 2 190995184 missense variant C/T snv 13
rs367814475
IVD
0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 9
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05 4
rs864309530
LYST
1 235806165 missense variant G/T snv 3
rs1556408009
XIAP
0.925 0.200 X 123900534 stop gained C/T snv 3