EP400, E1A binding protein p400, 57634

N. diseases: 22; N. variants: 2
Disease: Red cell distribution width determination ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57565032
rs57565032 		12 131949846 upstream gene variant G/T snv 0.14
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2019
dbSNP: rs12318272
rs12318272 		12 132049192 intron variant A/G snv 0.14
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017