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: rs121908120
rs121908120
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs121908119
rs121908119
10 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 0.010 < 0.001 1 2016 2016