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: rs2187668
rs2187668
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.700 1.000 1 2014 2014
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs3891175
rs3891175
5 0.851 0.160 6 32666690 5 prime UTR variant C/T snv 0.20 0.700 1.000 1 2018 2018