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: rs1331120970
rs1331120970
1 2 127428921 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs146922325
rs146922325
5 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs1799810
rs1799810
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.010 1.000 1 2015 2015