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: rs10159239
rs10159239
NLRP3
3 0.882 0.040 1 247443750 intron variant G/A snv 0.57 0.010 1.000 1 2020 2020
dbSNP: rs133049
rs133049
MRTFA
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 1.000 1 2020 2020
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2020 2020
dbSNP: rs72658855
rs72658855
LDLR
3 0.882 0.040 19 11100245 missense variant C/G;T snv 2.3E-03 9.4E-03 0.010 1.000 1 2020 2020
dbSNP: rs756601757
rs756601757
USF1 ; TSTD1
3 0.882 0.040 1 161040847 missense variant G/A snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs891512
rs891512
NOS3
4 0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85 0.010 1.000 1 2020 2020
dbSNP: rs972655070
rs972655070
USF1 ; TSTD1
3 0.882 0.040 1 161040282 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.020 1.000 2 2019 2019
dbSNP: rs1050993
rs1050993
MTR
1 1.000 0.040 1 236899005 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1051339
rs1051339
LIPA
3 0.882 0.040 10 89247582 missense variant C/T snv 9.5E-02 0.13 0.010 1.000 1 2019 2019
dbSNP: rs10738606
rs10738606
CDKN2B-AS1
2 1.000 0.040 9 22088091 intron variant A/T snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs12165908
rs12165908
TBX1
1 1.000 0.040 22 19777658 intron variant G/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1266235110
rs1266235110
SHBG
1 1.000 0.040 17 7631674 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12704673
rs12704673
CALCR
3 0.882 0.040 7 93525009 intron variant A/G;T snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs139401390
rs139401390 		5 0.851 0.120 10 88643382 regulatory region variant A/G snv 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs143085291
rs143085291
GATA6
1 1.000 0.040 18 22194545 intron variant C/T snv 7.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs1743963
rs1743963
SGK1
4 0.882 0.120 6 134176537 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1761667
rs1761667
CD36
12 0.752 0.320 7 80615623 intron variant G/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1763509
rs1763509
SGK1
4 0.882 0.120 6 134233200 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1770449
rs1770449
MTR
1 1.000 0.040 1 236874861 intron variant T/C snv 0.32 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1799930
rs1799930
NAT2
17 0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1799931
rs1799931
NAT2
14 0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799941
rs1799941
SHBG
11 0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18 0.010 1.000 1 2019 2019