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: 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
dbSNP: rs10146249
rs10146249
1 1.000 0.080 14 92074996 intron variant C/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10433937
rs10433937
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1140409
rs1140409
2 0.925 0.080 17 64500552 missense variant A/C snv 5.4E-02 5.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs12104272
rs12104272
2 0.925 0.080 19 49644795 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs26311
rs26311
1 1.000 0.080 3 10291242 5 prime UTR variant C/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs2679757
rs2679757
2 0.925 0.080 8 102858590 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs2710833
rs2710833
2 0.925 0.080 4 168488807 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs3017895
rs3017895
1 1.000 0.080 4 88728340 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3730017
rs3730017
1 1.000 0.080 17 27782076 missense variant G/A snv 3.7E-02 7.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs4646038
rs4646038
2 0.925 0.080 1 15506705 intron variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs571462252
rs571462252
2 0.925 0.080 12 52904720 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs57749775
rs57749775
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs643608
rs643608
2 0.925 0.080 21 43348682 intergenic variant C/T snv 0.69 0.700 1.000 1 2010 2010
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: rs6591182
rs6591182
2 0.925 0.080 11 65582285 missense variant T/G snv 0.47 0.45 0.700 1.000 1 2010 2010
dbSNP: rs675520
rs675520
2 0.925 0.080 6 137672095 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6834059
rs6834059
AFP
2 0.925 0.080 4 73435958 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs7158733
rs7158733
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: rs8021276
rs8021276
2 0.925 0.080 14 92110162 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs886277
rs886277
1 1.000 0.080 11 2418537 missense variant T/C snv 0.44 0.47 0.010 1.000 1 2013 2013
dbSNP: rs887304
rs887304
2 0.925 0.080 12 3648382 3 prime UTR variant T/C snv 0.77 0.700 1.000 1 2010 2010