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: rs11705555
rs11705555 		1 1.000 0.040 22 27810924 regulatory region variant A/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs12465515
rs12465515
LOC101928278 ; LOC105373874
1 1.000 0.040 2 217029680 intergenic variant C/G snv 0.74 0.700 1.000 1 2015 2015
dbSNP: rs171408
rs171408
LMCD1 ; LMCD1-AS1
1 1.000 0.040 3 8567234 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17767392
rs17767392
LOC102724015
1 1.000 0.040 14 71298060 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs1879734
rs1879734
GLIS1
1 1.000 0.040 1 53673181 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs216205
rs216205
SMG6
1 1.000 0.040 17 2292856 intron variant C/A;T snv 0.75 0.700 1.000 1 2015 2015
dbSNP: rs62229266
rs62229266
LOC100133286
1 1.000 0.040 21 36087973 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518791
rs1057518791
TRPS1
7 0.925 0.120 8 115604739 stop gained C/T snv 0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
14 0.790 0.160 X 20193547 missense variant G/C 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: rs112550005
rs112550005
FBN1
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs113422242
rs113422242
FBN1
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs113812345
rs113812345
FBN1
10 0.790 0.160 15 48513591 stop gained G/A snv 0.700 0
dbSNP: rs1443187318
rs1443187318
AEBP1
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555393889
rs1555393889
FBN1
4 0.851 0.200 15 48415758 missense variant T/A;C snv 0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
8 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
dbSNP: rs1555397413
rs1555397413
FBN1
13 0.732 0.280 15 48470705 missense variant T/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: rs1566911709
rs1566911709
FBN1
15 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
dbSNP: rs1566913974
rs1566913974
FBN1
8 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
dbSNP: rs397515804
rs397515804
FBN1
11 0.776 0.200 15 48472628 missense variant C/A;T snv 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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2008 2008