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: rs387907022
rs387907022
0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2009 2015
dbSNP: rs926748713
rs926748713
1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 7 2009 2015