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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
dbSNP: rs1037630475
rs1037630475
PRDM6 ; LOC105379152
1 5 123090099 missense variant C/T snv 1.4E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs11041321
rs11041321
SYT9
1 11 7332638 intron variant C/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs1406275331
rs1406275331
GATA4
2 1.000 0.080 8 11708394 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2014 2014
dbSNP: rs2231137
rs2231137
ABCG2
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2005 2005
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs397517251
rs397517251
ANKRD1
1 10 90916262 missense variant G/A snv 5.9E-04 1.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs6489957
rs6489957
TBX5
4 0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 0.010 1.000 1 2019 2019