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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs26907
rs26907
RASGRF2
3 0.882 0.240 5 81069496 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2710833
rs2710833
DDX60L ; LOC107986198
2 0.925 0.080 4 168488807 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs3129859
rs3129859 		5 0.827 0.320 6 32433162 intergenic variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs343064
rs343064 		2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs368927897
rs368927897
JAK2 ; INSL6
9 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs3775290
rs3775290
TLR3
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3820998
rs3820998
TANK ; LOC105373719
3 0.882 0.120 2 161138615 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3844942
rs3844942 		3 0.882 0.120 4 189571800 intergenic variant T/C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4656942
rs4656942
CD244
4 0.851 0.160 1 160861258 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs571462252
rs571462252
KRT8
2 0.925 0.080 12 52904720 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs5743314
rs5743314
TLR3
5 0.851 0.160 4 186079221 intron variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs57749775
rs57749775
KRT8
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs6715787
rs6715787
EPAS1
4 0.851 0.200 2 46349033 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs675520
rs675520
LOC102723649 ; LOC105378018
2 0.925 0.080 6 137672095 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7158733
rs7158733
ATXN3
1 1.000 0.080 14 92070879 stop gained G/A;T snv 1.2E-05; 0.27 0.010 1.000 1 2018 2018
dbSNP: rs747432300
rs747432300
GPT ; LOC101928953
2 0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015