Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1443187318
AEBP1
0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 14
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv 24
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv 8
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs72645347
COL1A1
0.790 0.280 17 50196337 missense variant G/A snv 10
rs1555572254
COL1A1
17 50188569 frameshift variant G/- delins 2
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins 10
rs1554726245
COL5A1 ; LOC101448202
9 134834982 inframe deletion ACGCCGAGG/- delins 4
rs1553517323
COL5A2
1.000 2 189085204 missense variant C/A snv 4
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv 21
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
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
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs113812345
FBN1
0.790 0.160 15 48513591 stop gained G/A snv 10
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
rs761857514
FBN1
0.851 0.240 15 48452676 stop gained C/A;T snv 4.0E-06 8
rs1555398673
FBN1
0.807 0.200 15 48488433 missense variant A/G snv 7
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37