rs1553654413, ITPR1

N. diseases: 4
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.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
Gillespie syndrome
CUI: C0431401
Disease: Gillespie syndrome
13 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
Nonprogressive cerebellar ataxia
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
1 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018