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: rs2278236
rs2278236
2 19 8366697 intron variant G/A;C snv 0.800 1.000 4 2012 2019
dbSNP: rs7255436
rs7255436
2 19 8368312 intron variant C/A snv 0.55 0.800 1.000 3 2010 2018
dbSNP: rs116843064
rs116843064
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.700 1.000 7 2014 2019