Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs10510181
CHL1-AS2
0.882 0.200 3 149364 intron variant G/A snv 0.31 4
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv 2
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518828
GFAP
1.000 0.040 17 44911317 missense variant T/G snv 1
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv 6
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 7
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 7
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins 5
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs11190870 0.827 0.200 10 101219450 intergenic variant T/A;C snv 6
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs11598177 1.000 0.040 10 101220399 regulatory region variant T/C snv 0.47 1
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38