Source: ALL
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: rs1044516
rs1044516
1.000 0.080 1 209786269 3 prime UTR variant G/T snv 0.23
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs7802
rs7802
1.000 1 209785814 3 prime UTR variant A/G snv 7.0E-04
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 1.000 1 2007 2007