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
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv 13
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9