Gene: EGOT ×
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: rs17041333
rs17041333
ITPR1 ; EGOT
2 3 4751322 non coding transcript exon variant T/G snv 8.0E-02 0.700 1.000 1 2015 2015