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: rs63750680
rs63750680
2 1.000 0.080 14 73198076 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs902596253
rs902596253
EGF
1 1.000 0.080 4 109941062 missense variant C/T snv 0.010 1.000 1 2015 2015