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: rs1553630457
rs1553630457
TGFBR2
8 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518883
rs1057518883
FBN1
7 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
dbSNP: rs1057518938
rs1057518938
MYH11 ; NDE1
5 0.882 0.080 16 15724166 missense variant C/G snv 0.700 0
dbSNP: rs1085308004
rs1085308004
FBN1
9 0.807 0.240 15 48425420 missense variant A/G snv 0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs113812345
rs113812345
FBN1
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1555398397
rs1555398397
FBN1
10 0.807 0.240 15 48485436 missense variant C/T snv 0.700 0
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs398123009
rs398123009
PACS1
19 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0