Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs11191580
NT5C2
0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 12
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 10
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36 7
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6