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: rs80357299
rs80357299
2 0.925 0.200 17 43045749 missense variant T/G snv 0.010 1.000 1 2013 2013