SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Congenital deafness ×
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: rs111033243
rs111033243 		0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs760352870
rs760352870 		1.000 0.200 7 107701196 splice region variant G/A snv 4.0E-06 1.4E-05
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013