Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs35135520
TIMM50
0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 12
rs776019250
TIMM50
0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 12
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs80358263
NPC2
0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06 7
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs1555580263
SMARCD2
0.827 0.240 17 63837200 stop gained -/AGGTAGAACCTTATCTGCCATCTTC delins 6
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv 5
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs886039777
SON ; MIR6501
0.925 0.120 21 33549517 stop gained C/T snv 3
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62