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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.700 0
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs199472823
rs199472823
KCNQ1
5 0.851 0.240 11 2571328 missense variant T/C snv 0.700 0
dbSNP: rs11466512
rs11466512
TGFBR2
1 1.000 0.160 3 30671634 splice region variant T/A;C snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2276767
rs2276767
TGFBR2
1 1.000 0.160 3 30691329 intron variant C/A snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs876658120
rs876658120
TGFBR2
1 1.000 0.160 3 30691437 inframe deletion ACGTTGACTGAG/- delins 0.700 0
dbSNP: rs727504421
rs727504421
TGFBR2
3 0.882 0.160 3 30691465 missense variant G/A;T snv 0.700 0
dbSNP: rs397515866
rs397515866
FBN1
1 1.000 0.160 15 48411000 frameshift variant AA/- delins 0.700 0
dbSNP: rs397515865
rs397515865
FBN1
1 1.000 0.160 15 48411006 missense variant T/G snv 0.700 0
dbSNP: rs1060501033
rs1060501033
FBN1
2 0.925 0.160 15 48411045 frameshift variant A/- del 0.700 1.000 3 2009 2015
dbSNP: rs794728323
rs794728323
FBN1
1 1.000 0.160 15 48411062 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs1555393508
rs1555393508
FBN1
1 1.000 0.160 15 48411070 stop gained C/A;T snv 0.700 0
dbSNP: rs1555393510
rs1555393510
FBN1
1 1.000 0.160 15 48411076 stop gained G/A snv 0.700 0
dbSNP: rs1064794130
rs1064794130
FBN1
1 1.000 0.160 15 48411077 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs587782948
rs587782948
FBN1
1 1.000 0.160 15 48411085 stop gained C/A snv 0.700 1.000 1 2011 2011
dbSNP: rs886038795
rs886038795
FBN1
2 0.925 0.160 15 48411118 stop gained G/A snv 0.700 1.000 3 2009 2015
dbSNP: rs397515864
rs397515864
FBN1
1 1.000 0.160 15 48411123 stop gained G/C snv 0.700 0
dbSNP: rs1555393525
rs1555393525
FBN1
1 1.000 0.160 15 48411127 frameshift variant A/- del 0.700 0
dbSNP: rs727504454
rs727504454
FBN1
1 1.000 0.160 15 48411131 inframe deletion TCC/- del 0.700 0
dbSNP: rs1555393532
rs1555393532
FBN1
2 0.925 0.160 15 48411159 missense variant T/C;G snv 0.700 0
dbSNP: rs1555393538
rs1555393538
FBN1
1 1.000 0.160 15 48411189 frameshift variant -/T delins 0.700 0
dbSNP: rs193922246
rs193922246
FBN1
1 1.000 0.160 15 48411189 inframe deletion TTTTAA/- delins 0.700 0
dbSNP: rs869025417
rs869025417
FBN1
1 1.000 0.160 15 48411267 missense variant A/G snv 0.700 1.000 1 2002 2002