Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933970
rs28933970
PAX9 ; LOC105370455
0.925 0.080 14 36662954 missense variant T/C snv
CUI: C1970291
Disease: Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 3 		0.700 0
dbSNP: rs28933970
rs28933970
PAX9 ; LOC105370455
0.925 0.080 14 36662954 missense variant T/C snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2017 2017