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: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs104893951
rs104893951
FOXC1
5 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104894232
rs104894232
PUS3 ; HYLS1
4 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs104894378
rs104894378
TBX5
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs104894381
rs104894381
TBX5
5 0.925 0.120 12 114401830 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1057517786
rs1057517786
PDCD10
3 0.925 0.400 3 167704889 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
FBN2
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1206736425
rs1206736425
FCGR3B
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs121909173
rs121909173
HESX1
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs121909497
rs121909497
MMP13
3 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121912974
rs121912974
POR
4 0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
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: rs121918502
rs121918502
FGFR2
9 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs12329305
rs12329305
OSR1
1 2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12720071
rs12720071
CNR1
7 0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs137854438
rs137854438
FAM83H
2 1.000 0.080 8 143728570 stop gained A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs142322800
rs142322800
FCGR3A
1 1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 0.010 1.000 1 2018 2018