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: rs119103265
rs119103265
5 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011