Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 3
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 1
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19