Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 9
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs786201041
PTEN
0.776 0.160 10 87961119 splice donor variant G/A;C snv 9
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv 9
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 8
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 8
rs199469464
SRCAP
0.807 0.200 16 30737370 stop gained C/T snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 7
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 7
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv 7
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 6
rs1131692154
SYNGAP1
0.925 0.160 6 33432700 stop gained C/T snv 6
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 6
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 6
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv 6
rs869320713
LOC107984190 ; ZMYND11
0.851 0.120 10 248370 missense variant G/A snv 6
rs886037945
CACNA1A
0.827 0.160 19 13303584 missense variant C/T snv 6