RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
Disease: White Blood Cell Count procedure ×
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: rs142472947
rs142472947 		1 8460428 intron variant AAG/- delins 0.16
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4908508
rs4908508 		1 8740721 intron variant T/C snv 0.20
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019