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: rs1468326
rs1468326 		1 12 748335 upstream gene variant A/C;T snv 0.040 1.000 4 2005 2018
dbSNP: rs111253292
rs111253292
CORIN
1 4 47661743 missense variant T/G snv 4.6E-03 2.0E-02 0.030 1.000 3 2007 2012
dbSNP: rs1397858410
rs1397858410
CHGA
1 14 92932714 missense variant G/A snv 0.030 1.000 3 2007 2016
dbSNP: rs35929607
rs35929607
STK39
1 2 168179226 intron variant A/G snv 0.27 0.030 0.667 3 2011 2016
dbSNP: rs6749447
rs6749447
STK39
2 2 168184876 intron variant T/G snv 0.37 0.030 0.667 3 2013 2018
dbSNP: rs75770792
rs75770792
CORIN
1 4 47661782 missense variant G/A snv 4.6E-03 2.0E-02 0.030 1.000 3 2007 2012
dbSNP: rs820430
rs820430 		3 3 27507409 regulatory region variant A/G snv 0.30 0.710 1.000 3 2015 2018
dbSNP: rs9658667
rs9658667
CHGA
2 14 92932705 missense variant G/A snv 3.1E-02 2.3E-02 0.030 1.000 3 2007 2016
dbSNP: rs11105378
rs11105378
ATP2B1
1 12 89696964 intron variant C/T snv 0.15 0.020 1.000 2 2010 2012
dbSNP: rs1401982
rs1401982
ATP2B1
4 12 89595822 intron variant G/A snv 0.60 0.710 1.000 2 2013 2018
dbSNP: rs167479
rs167479
RGL3
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 2 2016 2016
dbSNP: rs1902859
rs1902859 		4 4 80236549 regulatory region variant T/C snv 0.27 0.700 1.000 2 2015 2018
dbSNP: rs200339834
rs200339834
RGS2
1 1 192810186 missense variant G/A snv 1.2E-04 7.0E-05 0.020 1.000 2 2005 2008
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.020 1.000 2 2011 2019
dbSNP: rs2070759
rs2070759
ATP2B1
1 12 89623959 intron variant G/T snv 0.49 0.020 1.000 2 2010 2016
dbSNP: rs2493134
rs2493134
AGT
4 1 230713613 intron variant T/C snv 0.57 0.020 1.000 2 2016 2019
dbSNP: rs2932538
rs2932538
MOV10
4 1 112673921 intron variant A/C;G snv 0.810 1.000 2 2011 2013
dbSNP: rs4305
rs4305
ACE
1 17 63480868 intron variant A/G snv 0.45 0.020 1.000 2 2011 2013
dbSNP: rs4373814
rs4373814 		5 10 18131043 intergenic variant G/C;T snv 0.810 1.000 2 2011 2013
dbSNP: rs6969780
rs6969780
HOXA3 ; HOXA-AS2
4 7 27119517 splice region variant G/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs7302981
rs7302981
CERS5
4 12 50144032 missense variant A/G;T snv 0.69 0.71 0.700 1.000 2 2016 2016
dbSNP: rs10033366
rs10033366
ENPEP
1 4 110409934 intron variant T/C snv 0.92 0.700 1.000 1 2018 2018
dbSNP: rs10069554
rs10069554 		1 5 33204354 intron variant T/C snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs10086846
rs10086846
CYP11B2 ; GML
1 8 142915715 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1012657750
rs1012657750
SELENBP1
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020