Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs140119177
FAM120AOS
0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 16
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv 3
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv 3
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 1
rs771785420
GAN
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 8
rs1057518828
GFAP
1.000 0.040 17 44911317 missense variant T/G snv 1
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
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
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6