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: rs119476050
rs119476050
2 1.000 0.080 14 50628154 missense variant C/T snv 4.0E-06 0.700 1.000 3 2007 2013
dbSNP: rs864622269
rs864622269
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 3 2007 2013