Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 3
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs771785420
GAN
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 8
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 9
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 9
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv 7
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
rs1350968647
MYH3
0.851 0.080 17 10642825 splice donor variant C/T snv 7.0E-06 5
rs763944786
RYR1
0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 5