Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs886039795
TMEM256-PLSCR3 ; TMEM256
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 10