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: rs778127887
rs778127887
1 3 14141613 stop gained C/T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs63750743
rs63750743
4 0.925 0.080 3 14141665 missense variant C/T snv 0.010 1.000 1 2019 2019