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: rs12493607
rs12493607
1 0.882 0.080 3 30641447 intron variant G/C;T snv 0.710 1.000 1 2013 2014