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: rs1800813
rs1800813
1 4 54228300 intron variant G/A snv 0.21 0.800 1.000 1 2014 2014
dbSNP: rs2307049
rs2307049
1 4 54263987 3 prime UTR variant G/A snv 0.22 0.18 0.700 1.000 1 2013 2013
dbSNP: rs7660560
rs7660560
1 4 54268227 intron variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs7677751
rs7677751
3 0.925 0.040 4 54258293 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013