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: rs267598596
rs267598596
5 0.827 0.120 1 40818164 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs80358273
rs80358273
3 0.882 0.160 1 40818518 missense variant C/G snv 3.3E-04 1.1E-04 0.010 1.000 1 2018 2018