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: rs4646437
rs4646437
CYP3A4
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs2233682
rs2233682
PIN1
5 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs705382
rs705382
PON1
5 0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2015 2015
dbSNP: rs2289030
rs2289030
KRT19P2 ; MIR492
6 0.882 0.120 12 94834510 non coding transcript exon variant G/C snv 9.7E-02 6.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs767864210
rs767864210
PDLIM5
3 0.882 0.120 4 94657500 missense variant G/A;T snv 8.0E-05 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.020 1.000 2 2019 2019
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.050 1.000 5 2011 2019
dbSNP: rs7254880
rs7254880
ZNF699
4 0.882 0.160 19 9298599 intron variant C/G snv 0.16 0.010 < 0.001 1 2015 2015
dbSNP: rs6487679
rs6487679 		2 0.925 0.080 12 9218736 intergenic variant C/T snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs8021276
rs8021276 		2 0.925 0.080 14 92110162 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10146249
rs10146249
ATXN3
1 1.000 0.080 14 92074996 intron variant C/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs7158733
rs7158733
ATXN3
1 1.000 0.080 14 92070879 stop gained G/A;T snv 1.2E-05; 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3017895
rs3017895
FAM13A ; FAM13A-AS1
1 1.000 0.080 4 88728340 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1059122
rs1059122
FAM13A ; FAM13A-AS1
3 0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1201810520
rs1201810520
EIF2AK3
2 0.925 0.160 2 88590497 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2241883
rs2241883
FABP1
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 < 0.001 1 2018 2018
dbSNP: rs1545224
rs1545224
FABP1
2 0.925 0.120 2 88124297 3 prime UTR variant A/G snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs10433937
rs10433937
HSD17B13
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs6834314
rs6834314 		10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs26907
rs26907
RASGRF2
3 0.882 0.240 5 81069496 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.020 1.000 2 2012 2013
dbSNP: rs4074
rs4074
CXCL1
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.020 1.000 2 2012 2013
dbSNP: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010