rs1553689752, 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 4680564 frameshift variant -/TATA ins 0.700 1.000 1 2018 2018