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: rs104894718
rs104894718
8 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 17 1998 2016