Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 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
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 9
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs796052571
GRIN2B ; LOC105369668
0.851 0.040 12 13608755 missense variant C/T snv 6
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
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
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs768407867
CHRNA1
0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs200533370
SYN1
0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 1
rs25409
LOC112268151 ; GABRB3
0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03 1