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: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs137854478
rs137854478
FBN1
4 0.851 0.160 15 48488233 missense variant C/T snv 0.700 0
dbSNP: rs1554701911
rs1554701911
TGFBR1
1 1.000 0.120 9 99144816 missense variant G/T snv 0.700 0
dbSNP: rs193922660
rs193922660
TGFBR2
1 1.000 0.120 3 30672334 missense variant A/G snv 0.700 0
dbSNP: rs193922664
rs193922664
TGFBR2
2 0.925 0.120 3 30691435 missense variant T/C snv 0.700 0
dbSNP: rs193922665
rs193922665
TGFBR2
1 1.000 0.120 3 30650316 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs587779715
rs587779715
COL3A1
2 0.925 0.200 2 189008089 missense variant G/C snv 0.700 0
dbSNP: rs727503475
rs727503475
TGFBR2
3 0.882 0.120 3 30688512 splice donor variant G/A;T snv 0.700 0
dbSNP: rs727503477
rs727503477
TGFBR2
2 0.925 0.120 3 30691486 missense variant G/A snv 0.700 0
dbSNP: rs727504421
rs727504421
TGFBR2
3 0.882 0.160 3 30691465 missense variant G/A;T snv 0.700 0
dbSNP: rs730880215
rs730880215
SMAD3
1 1.000 0.120 15 67181453 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs730880221
rs730880221
TGFB2
1 1.000 0.120 1 218434115 stop gained C/T snv 0.700 0
dbSNP: rs730880223
rs730880223
TGFBR1
1 1.000 0.120 9 99149237 missense variant A/G snv 0.700 0
dbSNP: rs730880224
rs730880224
TGFBR2
1 1.000 0.120 3 30674127 missense variant C/A;T snv 0.700 0
dbSNP: rs79375991
rs79375991
TGFBR2
1 1.000 0.120 3 30650380 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs869025531
rs869025531
TGFB2
2 0.925 0.120 1 218405213 stop gained C/T snv 0.700 0
dbSNP: rs869025533
rs869025533
TGFB2
1 1.000 0.120 1 218405191 frameshift variant -/A delins 0.700 0
dbSNP: rs886038919
rs886038919
TGFBR1
1 1.000 0.120 9 99138041 missense variant A/G snv 0.700 0
dbSNP: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.710 1.000 6 2005 2013
dbSNP: rs727504292
rs727504292
TGFBR2
3 0.882 0.120 3 30672250 missense variant G/A;C snv 1.6E-05 0.700 1.000 4 2005 2013
dbSNP: rs104893815
rs104893815
TGFBR2
4 0.851 0.240 3 30691478 missense variant G/A snv 0.700 1.000 2 2005 2006
dbSNP: rs104893819
rs104893819
TGFBR2
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 1.000 6 2006 2016
dbSNP: rs113605875
rs113605875
TGFBR1
3 0.882 0.120 9 99149253 missense variant G/A;C;T snv 0.700 1.000 6 2006 2012
dbSNP: rs760079636
rs760079636
TGFBR1
1 1.000 0.120 9 99142664 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 2006 2016
dbSNP: rs397516840
rs397516840
TGFBR2
1 1.000 0.120 3 30688482 stop gained G/T snv 0.700 1.000 2 2006 2006