Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins 13
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 13
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs1057518887
SEPSECS
0.925 0.160 4 25156851 splice region variant C/T snv 7