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: rs121913237
rs121913237
42 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1372169495
rs1372169495
1 1.000 6 106086585 missense variant G/A;C snv 6.3E-06; 6.3E-06 0.010 1.000 1 2014 2014