Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv 8
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv 7
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv 6
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv 6
rs104894885
NDUFA1 ; RNF113A
0.851 0.120 X 119873312 missense variant G/A;C snv 5
rs1057518801
SCN3A
0.851 0.080 2 165130238 missense variant A/G snv 5
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv 5
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5