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: rs2071746
rs2071746
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 < 0.001 1 2013 2013
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: rs26907
rs26907
3 0.882 0.240 5 81069496 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.010 < 0.001 1 2011 2011
dbSNP: rs3844942
rs3844942
3 0.882 0.120 4 189571800 intergenic variant T/C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.010 1.000 1 2017 2017
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: rs4646437
rs4646437
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs4656942
rs4656942
4 0.851 0.160 1 160861258 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs485618
rs485618
4 0.851 0.160 1 160830690 3 prime UTR variant T/A;C;G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs510432
rs510432
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs548234
rs548234
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs571462252
rs571462252
2 0.925 0.080 12 52904720 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs5743314
rs5743314
5 0.851 0.160 4 186079221 intron variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs5998152
rs5998152
5 0.827 0.160 22 31867176 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
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: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs7254880
rs7254880
4 0.882 0.160 19 9298599 intron variant C/G snv 0.16 0.010 < 0.001 1 2015 2015
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: rs843645
rs843645
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs843720
rs843720
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs897206619
rs897206619
HFE
3 0.882 0.120 6 26093128 missense variant C/T snv 3.5E-05 0.010 1.000 1 2011 2011