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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 26 2005 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2013 2020
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.020 1.000 2 2013 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs10769256
rs10769256
1 1.000 0.040 11 47356845 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11090045
rs11090045
2 1.000 0.040 22 41357599 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs11159097
rs11159097
1 1.000 0.040 14 74633180 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs12923795
rs12923795
1 1.000 0.040 16 7612705 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1296171
rs1296171
1 1.000 0.040 1 226871905 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13094915
rs13094915
1 1.000 0.040 3 52473703 intron variant G/A;C snv 1.0E-04; 0.42 0.700 1.000 1 2018 2018
dbSNP: rs13262595
rs13262595
3 1.000 0.040 8 142235609 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13328187
rs13328187
1 1.000 0.040 5 88569547 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1427041
rs1427041
1 1.000 0.040 18 37628357 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs150491901
rs150491901
1 1.000 0.040 8 10468395 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1555743003
rs1555743003
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1593304
rs1593304
2 0.925 0.120 7 131935088 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1724725
rs1724725
1 1.000 0.040 3 158184607 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1890184
rs1890184
1 1.000 0.040 10 102988702 intron variant A/C;T snv 0.700 1.000 1 2018 2018