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: rs1264848
rs1264848
1 1.000 0.040 3 174266156 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2017 2017
dbSNP: rs198968
rs198968
1 1.000 0.040 19 50910072 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3790506
rs3790506
1 1.000 0.040 1 151565890 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs4547741
rs4547741
LTF
1 1.000 0.040 3 46458968 intron variant C/T snv 5.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs4690994
rs4690994
1 1.000 0.040 4 161016406 intergenic variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs7217186
rs7217186
5 0.827 0.120 17 4636097 intron variant C/T snv 0.45 0.010 1.000 1 2015 2015