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: rs2367281
rs2367281
1 5 91107358 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2443074
rs2443074
1 5 90803516 intron variant T/G snv 1.8E-02 0.700 1.000 1 2012 2012