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: rs746147592
rs746147592
SRPX2
2 1.000 0.160 X 100665627 missense variant G/A;C snv 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2017 2017
dbSNP: rs764120087
rs764120087
EP300
2 22 41117439 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
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: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs527236031
rs527236031
PIGT ; MIR6812
5 0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs756632799
rs756632799
PIGT ; LOC107985405
5 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs774753616
rs774753616
PIGT ; LOC107985405
3 1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs757956956
rs757956956
GPI
1 19 34377533 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs587777186
rs587777186
PIGN
3 0.925 18 62146023 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs769269532
rs769269532
SOX9 ; SOX9-AS1
2 1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs121918214
rs121918214
FTO
3 1.000 0.200 16 53873837 missense variant G/A snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs745616565
rs745616565
FTO
3 1.000 0.200 16 53873855 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs781028867
rs781028867
FTO
3 1.000 0.200 16 53873846 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2017 2018
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: rs80338852
rs80338852
B3GLCT
3 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
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: rs201968272
rs201968272
DDX11
3 0.925 0.160 12 31089147 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 < 0.001 1 2019 2019
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: rs121909497
rs121909497
MMP13
3 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005