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: rs587777695
rs587777695
0.925 0.120 5 61544156 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2014 2017