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: 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: rs727504421
rs727504421
TGFBR2
3 0.882 0.160 3 30691465 missense variant G/A;T snv 0.700 0
dbSNP: rs876658120
rs876658120
TGFBR2
1 1.000 0.160 3 30691437 inframe deletion ACGTTGACTGAG/- delins 0.700 0
dbSNP: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.700 0
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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs199472823
rs199472823
KCNQ1
5 0.851 0.240 11 2571328 missense variant T/C snv 0.700 0
dbSNP: rs121918355
rs121918355
LTBP2
7 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
dbSNP: rs137854855
rs137854855
LTBP2
3 0.882 0.200 14 74551108 stop gained G/A;C snv 4.0E-06 0.710 1.000 1 2012 2012
dbSNP: rs137854480
rs137854480
FBN1
11 0.742 0.200 15 48537629 missense variant G/A snv 0.800 1.000 37 1993 2019
dbSNP: rs140593
rs140593
FBN1
2 0.925 0.160 15 48489896 missense variant C/G;T snv 0.800 1.000 37 1993 2017
dbSNP: rs140603
rs140603
FBN1
2 0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04 0.800 1.000 37 1993 2017
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.820 1.000 36 1993 2017
dbSNP: rs140592
rs140592
FBN1
2 0.925 0.160 15 48489947 missense variant A/G snv 7.0E-06 0.800 1.000 35 1993 2017
dbSNP: rs137854460
rs137854460
FBN1
2 0.925 0.160 15 48432943 missense variant C/G;T snv 0.800 1.000 34 1993 2017
dbSNP: rs363853
rs363853
FBN1
1 1.000 0.160 15 48596292 missense variant A/G snv 0.800 1.000 34 1993 2017
dbSNP: rs137854471
rs137854471
FBN1
2 0.925 0.160 15 48483931 missense variant C/T snv 0.800 1.000 33 1993 2017
dbSNP: rs137854478
rs137854478
FBN1
4 0.851 0.160 15 48488233 missense variant C/T snv 0.810 1.000 33 1993 2017
dbSNP: rs137854462
rs137854462
FBN1
1 1.000 0.160 15 48510115 missense variant T/A snv 0.810 1.000 31 1993 2017
dbSNP: rs137854467
rs137854467
FBN1
7 0.790 0.280 15 48600217 missense variant G/A snv 0.810 1.000 31 1993 2017
dbSNP: rs137854457
rs137854457
FBN1
2 0.925 0.160 15 48428423 missense variant C/G;T snv 0.800 1.000 30 1993 2017
dbSNP: rs137854458
rs137854458
FBN1
1 1.000 0.160 15 48483910 missense variant C/G snv 0.800 1.000 30 1993 2017