rs1559638068, ITPR1

N. diseases: 1
Source: CURATED ×
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.
Gillespie syndrome
CUI: C0431401
Disease: Gillespie syndrome
13 1.000 0.240 3 4662080 splice acceptor variant A/T snv 0.700 0