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: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003