Disease: Congenital Abnormality ×
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: rs527236031
rs527236031 		0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2014 2014
dbSNP: rs756632799
rs756632799 		0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2014 2014
dbSNP: rs774753616
rs774753616 		1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018