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: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.040 1.000 4 2001 2020
dbSNP: rs353291
rs353291
MIR145 ; CARMN
6 0.807 0.200 5 149431183 non coding transcript exon variant T/C snv 0.35 0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.070 1.000 7 1999 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 1.000 6 2001 2019
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.050 1.000 5 2001 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 1998 2019
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.030 1.000 3 2013 2019
dbSNP: rs3825807
rs3825807
ADAMTS7
10 0.807 0.120 15 78796769 missense variant A/G snv 0.34 0.33 0.030 1.000 3 2013 2019
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2009 2019
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.020 1.000 2 2014 2019
dbSNP: rs5355
rs5355
SELE ; C1orf112
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 1.000 2 1999 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2019 2019
dbSNP: rs1056515
rs1056515
RGS5
3 0.882 0.040 1 163143470 3 prime UTR variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs13447720
rs13447720
MRE11
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2155209
rs2155209
MRE11
10 0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs2269422
rs2269422
AGER
3 0.882 0.040 6 32183517 intron variant T/C snv 1.7E-02 5.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs4523
rs4523
TBXA2R
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.010 1.000 1 2019 2019
dbSNP: rs495392
rs495392
KL
2 1.000 0.040 13 33018055 intron variant C/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs499952
rs499952
MRE11
2 0.925 0.040 11 94449826 intron variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs562020
rs562020
KL
1 1.000 0.040 13 33017932 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs567170
rs567170
KL
1 1.000 0.040 13 33043649 intron variant C/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs8042271
rs8042271 		3 0.882 0.040 15 89030987 intergenic variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.818 11 1999 2018
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.040 0.750 4 2010 2018