Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912425
rs121912425
ITPR1
1 1.000 0.080 3 4683472 missense variant C/T snv 0.800 1.000 3 2007 2010
dbSNP: rs886039392
rs886039392
ITPR1
4 0.882 0.240 3 4645678 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs869312685
rs869312685
ITPR1
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0