Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 46
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 17
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 9
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs774843232
PGAP2
0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 8
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 7
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv 6
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 5
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 5
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 5
rs878854402
TBL1XR1
0.851 0.280 3 177033050 missense variant T/C snv 5
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 5
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4
rs61751444
MECP2
0.882 0.080 X 154030903 missense variant G/A snv 4
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 4
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 3