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: rs16999497
rs16999497 		2 0.925 0.040 X 129601222 regulatory region variant T/C snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs5031002
rs5031002
AR
3 1.000 0.040 X 67722783 intron variant G/A snv 1.5E-02 1.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs5943057
rs5943057
CHRDL1
1 1.000 0.040 X 110695977 intron variant T/G snv 0.50 0.800 1.000 1 2011 2011
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: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.030 1.000 3 2004 2016
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs12165908
rs12165908
TBX1
1 1.000 0.040 22 19777658 intron variant G/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs133049
rs133049
MRTFA
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 1.000 1 2020 2020
dbSNP: rs1465444723
rs1465444723
TCN2
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
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 2014 2014
dbSNP: rs7291467
rs7291467
LGALS2
4 0.851 0.160 22 37576621 intron variant G/A snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs75680863
rs75680863
TCN2
1 1.000 0.040 22 30611036 missense variant A/G;T snv 2.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs9982601
rs9982601 		4 0.851 0.080 21 34226827 intron variant C/T snv 0.15 0.810 1.000 4 2011 2017
dbSNP: rs2254638
rs2254638
N6AMT1
3 0.882 0.040 21 28883961 intron variant A/C;G snv 0.020 1.000 2 2017 2018
dbSNP: rs771748290
rs771748290
CBS
3 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.020 1.000 2 2010 2013
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 0.500 2 1998 2013
dbSNP: rs779011920
rs779011920
CBS
3 0.882 0.160 21 43066299 missense variant C/T snv 8.0E-06 0.020 1.000 2 2010 2013
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121964962
rs121964962
CBS
5 0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04 0.010 1.000 1 2006 2006
dbSNP: rs143081213
rs143081213
RCAN1
2 1.000 0.040 21 34615168 upstream gene variant G/A snv 2.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs149048873
rs149048873
RCAN1
2 1.000 0.040 21 34615146 upstream gene variant G/A snv 5.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1943950
rs1943950 		1 1.000 0.040 21 30107534 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013