Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1135402740
SMCHD1
0.925 0.240 18 2674018 missense variant T/G snv 4
rs1057519642
SMCHD1
1.000 0.160 18 2697898 missense variant A/T snv 3