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: rs730881120
rs730881120
1 1.000 0.040 1 201368162 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011