SLC37A4, solute carrier family 37 member 4, 2542

N. diseases: 73; N. variants: 67
Disease: Glycogen Storage Disease ×
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: rs80356491
rs80356491 		0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2000
dbSNP: rs193302879
rs193302879 		1.000 0.080 11 119027811 missense variant G/A snv 8.3E-06
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs193302887
rs193302887 		1.000 0.080 11 119029300 missense variant A/G snv
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002