Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 14
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs6570507
ADGRG6
0.827 0.240 6 142358435 intron variant G/A snv 0.47 11
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 9
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs781417096
RARS2
0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 9
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 9
rs1561898352
CUL7 ; KLC4
0.882 0.200 6 43052582 frameshift variant -/A delins 8
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs771785420
GAN
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 8
rs797045164
KIF1A
0.851 0.120 2 240785063 missense variant G/A snv 8
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 8
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins 8