Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 16
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 6
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins 5
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv 5
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv 4
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4
rs1553510492
TBR1
2 161419040 missense variant A/G snv 4
rs74315457
ARSA
0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 3
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 3
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 2
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 2