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: rs63750730
rs63750730
6 0.827 0.120 14 73173574 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs63751019
rs63751019
3 0.925 0.080 14 73198066 missense variant C/G snv 0.010 1.000 1 2004 2004