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: rs540386
rs540386
4 0.851 0.200 11 36503743 intron variant C/G;T snv 0.720 0.667 3 2012 2019