Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1391534565
rs1391534565
FOXE3 ; LINC01389
1 1.000 0.040 1 47416805 missense variant C/A snv 0.700 0
dbSNP: rs1473260982
rs1473260982
LOX
1 1.000 0.040 5 122077382 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1553508473
rs1553508473
COL3A1
1 1.000 0.040 2 188997727 missense variant G/A snv 0.700 0
dbSNP: rs1555394195
rs1555394195
FBN1
2 0.925 0.160 15 48421601 stop gained G/T snv 0.700 0
dbSNP: rs1561417568
rs1561417568
LOX ; SRFBP1
1 1.000 0.040 5 122070581 missense variant A/T snv 0.700 0
dbSNP: rs1561420103
rs1561420103
LOX ; SRFBP1
1 1.000 0.040 5 122075539 stop gained G/A snv 0.700 0
dbSNP: rs1566894230
rs1566894230
FBN1
1 1.000 0.040 15 48430676 missense variant C/A;G snv 0.700 0
dbSNP: rs193922205
rs193922205
FBN1
1 1.000 0.040 15 48468527 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs367943249
rs367943249
FOXE3 ; LINC01389
2 1.000 0.040 1 47416772 missense variant G/A;C snv 4.2E-06 0.700 0
dbSNP: rs387906853
rs387906853
SMAD3
3 0.925 0.040 15 67181297 stop gained G/A;T snv 0.700 0
dbSNP: rs749960549
rs749960549
FOXE3 ; LINC01389
2 1.000 0.040 1 47416725 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs765692335
rs765692335
FBN1
1 1.000 0.040 15 48534129 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs794728319
rs794728319
FBN1
4 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 0
dbSNP: rs886040965
rs886040965
LOX ; SRFBP1
2 0.925 0.040 5 122075443 missense variant C/A snv 0.700 0
dbSNP: rs886040966
rs886040966
LOX
3 0.882 0.040 5 122077861 stop gained C/T snv 0.700 0
dbSNP: rs886040967
rs886040967
LOX ; SRFBP1
2 0.925 0.040 5 122075482 missense variant T/G snv 0.700 0
dbSNP: rs104893816
rs104893816
TGFBR2
3 0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs397516685
rs397516685
ACTA2 ; STAMBPL1 ; ACTA2-AS1
3 0.882 0.120 10 88939680 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs756570466
rs756570466
TGFBR1
1 1.000 0.040 9 99147675 missense variant T/G snv 8.0E-06 0.010 1.000 1 2016 2016