Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 10
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs1006737
CACNA1C
0.695 0.120 12 2236129 intron variant G/A snv 0.36 7
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 6
rs796052571
GRIN2B ; LOC105369668
0.851 0.040 12 13608755 missense variant C/T snv 6
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs11191454
LOC107984265 ; BORCS7-ASMT ; AS3MT
0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs1625579
MIR137HG
0.763 0.160 1 98037378 intron variant G/T snv 0.78 5
rs2535629
ITIH3
0.827 0.040 3 52799203 intron variant G/A;C snv 5
rs12877501
COL4A2
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 4
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 4
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv 4
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv 4
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs11585926
TRIM33
1.000 0.040 1 114431068 intron variant T/C snv 0.22 3
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs4327572 0.882 0.120 5 25972712 intron variant C/T snv 0.28 3