rs751050956, CNTNAP1

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
7 1.000 17 42693445 frameshift variant CT/- del 4.9E-05 0.700 0