Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267608402
MECP2
1.000 0.200 X 154030650 missense variant G/A snv 2
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 9
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs3758653
DRD4
1.000 0.200 11 636399 upstream gene variant T/C snv 0.20 2
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs397515486
HCFC1
0.925 0.200 X 153964702 missense variant G/A snv 2
rs398123561
TCF4
0.925 0.240 18 55350391 frameshift variant CTTT/- delins 2
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 5
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs587776690
ATR
0.882 0.280 3 142556439 synonymous variant T/C snv 4
rs587777696
SLC1A1 ; SPATA6L
0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 3
rs61748392
MECP2
0.925 0.200 X 154031418 missense variant T/C snv 3
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv 5
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs61749735
MECP2
0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05 3
rs61753016
MECP2
1.000 0.200 X 154030614 missense variant G/A snv 6.8E-05 3.9E-05 2
rs6511901
CC2D1A
1.000 0.200 19 13916839 intron variant C/T snv 0.39 2
rs6530893
TUSC3
1.000 0.200 8 15671068 intron variant T/C snv 0.14 2
rs6994908
TUSC3
1.000 0.200 8 15674943 intron variant T/C snv 0.32 2
rs723744
TTR
0.925 0.200 18 31592513 intron variant G/T snv 0.38 3
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15