Source: BEFREE ×
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: rs10738760
rs10738760 		6 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1617640
rs1617640
EPO
13 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
201 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2002 2002
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs1801282
rs1801282
PPARG
127 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1805192
rs1805192
PPARG
117 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1902491
rs1902491 		2 0.925 0.240 4 155134181 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2292239
rs2292239
ERBB3
9 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs3825932
rs3825932
CTSH
3 0.827 0.360 15 78943104 intron variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs3917779
rs3917779
SELP
2 0.925 0.280 1 169601610 intron variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4865047
rs4865047
CEP135
2 0.925 0.240 4 55955640 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
97 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2008 2008
dbSNP: rs6921438
rs6921438 		8 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019