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: rs2306363
rs2306363
7 11 65638129 5 prime UTR variant G/T snv 0.15 0.700 1.000 4 2017 2019
dbSNP: rs3741378
rs3741378
8 0.851 0.080 11 65641466 missense variant C/G;T snv 0.15 0.700 1.000 3 2016 2018