rs483352906, NEK1

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.
Majewski Syndrome
CUI: C0024507
Disease: Majewski Syndrome
31 1.000 0.080 4 169577081 splice acceptor variant T/C snv 0.700 0