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: rs8101881
rs8101881 		2 19 32873722 upstream gene variant C/T snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs850799
rs850799 		2 1.000 0.080 15 23679185 intergenic variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs883484
rs883484 		1 9 122362748 intergenic variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs9846911
rs9846911 		2 3 187500548 intergenic variant A/G snv 0.47 0.010 1.000 1 2013 2013
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: rs478333
rs478333
ABCB11
1 2 168922646 3 prime UTR variant G/A snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs3764913
rs3764913
ACADL
3 1.000 0.080 2 210210185 non coding transcript exon variant T/C snv 0.30 0.27 0.700 1.000 1 2018 2018
dbSNP: rs1799958
rs1799958
ACADS
4 0.882 0.160 12 120738280 missense variant G/A snv 0.26 0.21 0.700 1.000 1 2018 2018
dbSNP: rs2014355
rs2014355
ACADS
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1419367513
rs1419367513
ACAT2 ; SOD2 ; SOD2-OT1
1 6 159762678 non coding transcript exon variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2006
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2016 2016
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs762533455
rs762533455
ADRB2
1 5 148827300 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.040 1.000 4 2000 2019
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2009 2019
dbSNP: rs12721226
rs12721226
AGTR1
1 3 148741522 missense variant G/A snv 6.3E-04 1.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs5182
rs5182
AGTR1
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.010 1.000 1 2012 2012
dbSNP: rs6546837
rs6546837
ALMS1
1 2 73450771 missense variant G/C;T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs3803278
rs3803278
ALOX5AP
1 13 30744264 non coding transcript exon variant T/C snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs2074379
rs2074379
ALPK1
3 1.000 4 112431743 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2074380
rs2074380
ALPK1
2 4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381
ALPK1
2 4 112432293 missense variant A/G snv 8.5E-03 5.5E-03 0.010 1.000 1 2013 2013
dbSNP: rs2074388
rs2074388
ALPK1
3 1.000 4 112431241 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015