Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755081350
MACF1
1 39485559 missense variant G/A snv 1.6E-05 1
rs761960636
UBR4
1 19094058 missense variant G/T snv 3.2E-05 1
rs765435034
EDEM3
1 184694431 missense variant C/A snv 2.9E-05 1
rs776593168
UBR4
1 19167086 missense variant G/A;C snv 1.2E-05; 1.2E-05 1
rs782144677
LINC00624 ; CHD1L
1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05 1
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 26
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 15
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs748106387
SMARCAL1
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 9
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1559155800
OBSL1
1.000 0.200 2 219568150 missense variant C/T snv 7
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins 6
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv 6
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06 4
rs1553538488
OBSL1 ; INHA
1.000 0.200 2 219570542 frameshift variant -/G delins 2
rs1558553140
MTA3
2 42659795 missense variant G/A snv 1
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62