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: rs56238310
rs56238310
1 1.000 0.040 3 111514392 intron variant C/A;T snv 0.800 1.000 1 2011 2011