Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv 22
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv 22
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv 11
rs1555398397
FBN1
0.807 0.240 15 48485436 missense variant C/T snv 10
rs1085308004
FBN1
0.807 0.240 15 48425420 missense variant A/G snv 9
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv 7