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: rs7733088
rs7733088
5 1.000 0.040 5 148476770 intron variant G/A;C snv 0.44; 4.1E-06 0.700 1.000 2 2017 2019
dbSNP: rs10037493
rs10037493
1 1.000 0.040 5 148475407 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3995090
rs3995090
5 1.000 0.040 5 148466252 intron variant A/C snv 0.39 0.010 1.000 1 2014 2014