SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Thyroid Hypoplasia ×
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: rs55638457
rs55638457 		1.000 0.080 7 107701183 missense variant T/C snv 8.3E-03 6.0E-03
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2014 2014