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: rs4886238
rs4886238
1 13 60539605 intron variant G/A;T snv 0.800 1.000 2 2012 2015
dbSNP: rs7322160
rs7322160
1 13 60487322 intron variant T/C snv 0.31 0.700 1.000 1 2019 2019