SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Congenital hypoplasia of adrenal gland ×
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: rs1345986424
rs1345986424 		0.851 0.160 1 42943291 stop gained C/A;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2015 2015