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: rs1057520039
rs1057520039
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007