Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 1
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins 5
rs786204875
PTEN
0.882 0.120 10 87960913 stop gained G/A;T snv 4
rs281865136
EGR2
0.882 0.120 10 62813562 missense variant C/T snv 1
rs864622273
EGR2
0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
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
rs121918274
ROBO3
0.882 0.200 11 124870650 missense variant G/A;C snv 1.2E-05; 4.0E-06 1
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 8
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv 6