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: rs587777353
rs587777353
3 0.882 0.120 16 4335060 missense variant T/C snv 0.710 1.000 1 2016 2016
dbSNP: rs878855335
rs878855335
1 1.000 0.080 16 4335394 splice donor variant G/T snv 0.700 0