Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv 13
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 9
rs11931074
SNCA ; LOC105377329
0.851 0.080 4 89718364 intron variant G/A;C;T snv 7