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: rs1245476075
rs1245476075
FBN1
2 0.925 0.160 15 48430785 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs137854481
rs137854481
FBN1
3 0.882 0.160 15 48488481 missense variant C/T snv 0.700 0
dbSNP: rs140599
rs140599
FBN1
2 0.925 0.160 15 48487317 missense variant C/T snv 0.700 0
dbSNP: rs149062442
rs149062442
FBN1
2 0.925 0.160 15 48415588 stop gained C/A;T snv 2.0E-05 5.6E-05 0.700 0
dbSNP: rs1553507180
rs1553507180
COL3A1
2 0.925 0.040 2 188988083 frameshift variant C/- delins 0.700 0
dbSNP: rs1553507867
rs1553507867
COL3A1 ; MIR3606
2 0.925 0.040 2 188994066 missense variant G/A snv 0.700 0
dbSNP: rs1553517181
rs1553517181
COL5A2
2 0.925 0.040 2 189084028 missense variant C/T snv 0.700 0
dbSNP: rs1553630426
rs1553630426
TGFBR2
1 1.000 3 30674109 missense variant G/T snv 0.700 0
dbSNP: rs1553808296
rs1553808296
MYLK ; LOC105369194
2 0.925 0.040 3 123707752 splice donor variant A/G snv 0.700 0
dbSNP: rs1554701881
rs1554701881
TGFBR1
1 1.000 9 99144730 splice acceptor variant A/C;G snv 0.700 0
dbSNP: rs1554702262
rs1554702262
TGFBR1
1 1.000 9 99146610 splice donor variant G/A snv 0.700 0
dbSNP: rs1554702463
rs1554702463
TGFBR1
1 1.000 9 99147701 missense variant G/C snv 0.700 0
dbSNP: rs1554799402
rs1554799402
COL5A1
2 0.925 0.040 9 134785008 missense variant G/C snv 0.700 0
dbSNP: rs1555360229
rs1555360229
TGFB3 ; IFT43
2 0.925 14 75961030 stop gained G/A snv 0.700 0
dbSNP: rs1555393516
rs1555393516
FBN1
2 0.925 0.040 15 48411101 frameshift variant -/G delins 0.700 0
dbSNP: rs1555393532
rs1555393532
FBN1
2 0.925 0.160 15 48411159 missense variant T/C;G snv 0.700 0
dbSNP: rs1555393652
rs1555393652
FBN1
2 0.925 0.160 15 48412622 stop gained T/A snv 0.700 0
dbSNP: rs1555393825
rs1555393825
FBN1
2 0.925 0.160 15 48415545 missense variant A/C snv 0.700 0
dbSNP: rs1555393856
rs1555393856
FBN1
2 0.925 0.040 15 48415631 stop gained A/T snv 0.700 0
dbSNP: rs1555393866
rs1555393866
FBN1
2 0.925 0.160 15 48415666 stop gained G/A snv 0.700 0
dbSNP: rs1555394142
rs1555394142
FBN1
2 0.925 0.040 15 48420718 stop gained G/T snv 0.700 0
dbSNP: rs1555394402
rs1555394402
FBN1
2 0.925 0.160 15 48425424 stop gained G/C;T snv 0.700 0
dbSNP: rs1555394407
rs1555394407
FBN1
2 0.925 0.160 15 48425450 frameshift variant -/A delins 0.700 0
dbSNP: rs1555394569
rs1555394569
FBN1
2 0.925 0.160 15 48427679 stop gained G/T snv 0.700 0
dbSNP: rs1555394623
rs1555394623
FBN1
2 0.925 0.160 15 48428377 frameshift variant A/- delins 0.700 0