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: rs1403543
rs1403543
AGTR2
2 1.000 0.040 X 116170939 intron variant G/A snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1800321
rs1800321
OTC
2 X 38367350 missense variant A/G snv 0.19 0.26 0.010 1.000 1 2009 2009
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs5963409
rs5963409
OTC
3 1.000 0.080 X 38351716 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs763802417
rs763802417
NOX1
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs78478128
rs78478128
G6PD
7 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
dbSNP: rs7890572
rs7890572
IL1RAPL1
6 X 29622701 intron variant A/G snv 9.3E-02 0.700 1.000 1 2010 2010
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2014 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2017 2019
dbSNP: rs133049
rs133049
MRTFA
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 < 0.001 1 2018 2018
dbSNP: rs134557
rs134557
C22orf31
1 22 29061594 intron variant A/G;T snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs174877
rs174877
TANGO2
1 22 20057896 intron variant T/A;C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs4818
rs4818
COMT ; MIR4761
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs12627514
rs12627514 		3 1.000 0.040 21 43339560 intergenic variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1355489726
rs1355489726
SLC19A1
1 21 45530902 missense variant G/A snv 7.7E-06 0.010 1.000 1 2011 2011
dbSNP: rs2823139
rs2823139 		5 1.000 0.080 21 15204463 intron variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs4818833
rs4818833
HSF2BP
2 21 43569666 intron variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs540209920
rs540209920
SLC19A1
1 21 45531673 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 < 0.001 1 1996 1996
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 < 0.001 1 2010 2010
dbSNP: rs1234442507
rs1234442507
TUBB1
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.020 1.000 2 2005 2007
dbSNP: rs2295490
rs2295490
TRIB3
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs463312
rs463312
TUBB1
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.020 1.000 2 2005 2007