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: rs2237897
rs2237897
KCNQ1
6 0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs3115573
rs3115573 		2 1.000 0.120 6 32251066 upstream gene variant A/G snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2010 2010
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs10521145
rs10521145
SGF29
1 16 28585563 intron variant G/A snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs13333226
rs13333226
UMOD
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs17883901
rs17883901
GCLC
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1883414
rs1883414
HLA-DPB2
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs2412971
rs2412971
HORMAD2
5 0.882 0.320 22 30098382 intron variant G/A snv 0.55 0.800 1.000 1 2011 2011
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2011 2011
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs4821480
rs4821480
MYH9
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs7704116
rs7704116
PPP2CA
2 1.000 0.080 5 134216763 intron variant C/T snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs8177412
rs8177412
GPX3 ; LOC105378228
5 0.851 0.160 5 151020526 5 prime UTR variant T/C snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs8731
rs8731
SUPT7L ; GPN1
1 2 27650459 3 prime UTR variant C/G snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs9275224
rs9275224 		5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424 		1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs9275596
rs9275596 		7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.800 1.000 1 2011 2011
dbSNP: rs9357155
rs9357155
PSMB8
2 1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2012 2012