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: rs1801282
rs1801282
127 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2014 2018
dbSNP: rs1805192
rs1805192
117 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2014 2018
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2010 2010
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs5743708
rs5743708
97 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs6428829
rs6428829
2 0.925 0.040 1 119512118 intron variant A/G snv 0.78 0.010 1.000 1 2013 2013
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018