Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv 7
rs1057518782
LOC105372261 ; MCOLN1
0.925 0.120 19 7526579 stop gained C/G;T snv 7
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv 4
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 6
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1131692227
KDM5C
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 6
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv 2
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6