rs730880276, CNTNAP2

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.
Pitt-Hopkins-Like Syndrome 1
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
11 1.000 0.120 7 147485934 splice acceptor variant G/T snv 0.700 0