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: rs11563251
rs11563251
5 2 233770738 3 prime UTR variant C/T snv 0.19 0.800 1.000 2 2013 2017
dbSNP: rs7567229
rs7567229
1 2 233703893 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018