Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61730849
rs61730849
0.925 0.080 11 102611889 missense variant G/A snv 1.5E-03 1.8E-03
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 3 2013 2017
dbSNP: rs587777515
rs587777515
1.000 0.080 11 102609070 missense variant A/T snv
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs587777516
rs587777516
0.925 0.080 11 102625218 stop gained C/G;T snv 2.0E-05; 3.6E-05
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs786204826
rs786204826
1.000 0.080 11 102609943 missense variant T/C snv
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0