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: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs138207257
rs138207257
HOGA1
2 0.925 0.160 10 97611535 missense variant G/A;T snv 2.0E-05; 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs188942711
rs188942711
COL4A3 ; MFF-DT
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs12026
rs12026
PON2
6 0.827 0.240 7 95411704 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs7456421
rs7456421
HIPK2
4 0.882 0.120 7 139715976 synonymous variant G/C snv 0.27 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs7493
rs7493
PON2
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1382048442
rs1382048442
ABCC2
2 0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs7222094
rs7222094
MAP3K14
3 0.882 0.120 17 45290287 intron variant T/C snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs12704795
rs12704795
PON2
1 1.000 0.080 7 95424695 intron variant T/G snv 0.34 0.010 1.000 1 2006 2006