Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs1557055405
ABCD1
0.807 0.400 X 153743532 missense variant T/A snv 21
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs6570507
ADGRG6
0.827 0.240 6 142358435 intron variant G/A snv 0.47 11