rs775217258, SH3PXD2B

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.
Ter Haar syndrome
CUI: C1855305
Disease: Ter Haar syndrome
5 1.000 0.160 5 172422498 splice acceptor variant T/G snv 4.1E-06 0.700 0