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: rs1529927
rs1529927
SLC12A3
1 1.000 0.040 16 56870675 missense variant C/G snv 1.6E-05; 0.98 0.98 0.010 1.000 1 2004 2004
dbSNP: rs5253
rs5253
CLCNKB
1 1.000 0.040 1 16053701 missense variant T/C snv 0.93 0.89 0.010 1.000 1 2015 2015
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2006 2006
dbSNP: rs699512
rs699512
BLVRA ; LOC102724946
2 0.925 0.120 7 43771165 missense variant G/A snv 0.80 0.83 0.010 1.000 1 2011 2011
dbSNP: rs1047303
rs1047303
HSD3B1
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.895 19 1998 2017
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.060 0.833 6 2008 2018
dbSNP: rs3890011
rs3890011
CYP4A11
3 0.925 0.040 1 46933071 intron variant G/C snv 0.71 0.65 0.010 1.000 1 2017 2017
dbSNP: rs2228576
rs2228576
SCNN1A ; LOC107984500
4 0.851 0.160 12 6347896 missense variant T/A;C;G snv 4.5E-06; 0.69 0.010 1.000 1 2008 2008
dbSNP: rs5516
rs5516
KLK1
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.020 1.000 2 2007 2011
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs7565062
rs7565062
SCN7A
1 1.000 0.040 2 166477575 missense variant G/A;T snv 4.9E-06; 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2010 2011
dbSNP: rs2254524
rs2254524
LSS ; SNORD159
2 1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05 0.020 1.000 2 2016 2019
dbSNP: rs2275166
rs2275166
CLCNKB
1 1.000 0.040 1 16053748 missense variant A/G snv 0.65 0.70 0.010 1.000 1 2015 2015
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 1.000 1 2016 2016
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 1.000 2 2017 2019
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2002 2002
dbSNP: rs1801058
rs1801058
GRK4
4 0.882 0.120 4 3037423 missense variant T/C;G snv 0.62 0.030 1.000 3 2006 2016
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2002 2006
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1800780
rs1800780
NOS3
2 0.925 0.120 7 151001791 intron variant A/G snv 0.58 0.56 0.020 1.000 2 2013 2014
dbSNP: rs5351
rs5351
EDNRB ; EDNRB-AS1
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.020 1.000 2 2007 2017
dbSNP: rs11231825
rs11231825
SLC22A12
5 0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2536512
rs2536512
SOD3
14 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 0.010 1.000 1 2010 2010