MIA2, MIA SH3 domain ER export factor 2, 4253

N. diseases: 30; N. variants: 5
Disease: Fahr's syndrome (disorder) ×
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: rs1273642311
rs1273642311 		0.925 0.120 14 39320963 missense variant C/G snv 7.0E-06
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs36060072
rs36060072 		0.925 0.120 14 39320945 missense variant C/G;T snv 4.7E-03; 6.0E-05
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011