GRPEL1, GrpE like 1, mitochondrial, 80273

N. diseases: 4; N. variants: 2
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: rs13139941
rs13139941 		4 7070014 upstream gene variant A/G snv 0.77
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs140117073
rs140117073 		4 7064176 missense variant C/A;G;T snv 4.0E-06; 5.3E-04
CUI: C0018021
Disease: Goiter
Goiter 		Endocrine System Diseases 0.010 1.000 1 2013 2013