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: rs63750207
rs63750207
1 1.000 0.080 1 226891773 missense variant C/G;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2010 2010