Disease: Constitutional Mismatch Repair Deficiency Syndrome ×
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: rs587780062
rs587780062 		0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2016 2016