SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
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: rs111033199
rs111033199 		0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs111033242
rs111033242 		0.925 0.160 7 107675050 missense variant C/G snv 4.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs111033243
rs111033243 		0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243 		0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243 		0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243 		0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2010 2010
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: rs111033256
rs111033256 		0.882 0.160 7 107675060 missense variant T/A snv 2.0E-04 3.5E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs111033304
rs111033304 		1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs111033307
rs111033307 		0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs111033307
rs111033307 		0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0018021
Disease: Goiter
Goiter 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs111033307
rs111033307 		0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs111033307
rs111033307 		0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121908361
rs121908361 		0.882 0.160 7 107689156 stop gained A/G;T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121908364
rs121908364 		0.925 0.160 7 107689166 missense variant C/T snv
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1417146153
rs1417146153 		1.000 0.120 7 107710131 missense variant C/G snv 4.0E-06
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17154353
rs17154353 		0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17154353
rs17154353 		0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17154353
rs17154353 		0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs201562855
rs201562855 		0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28939086
rs28939086 		0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0018021
Disease: Goiter
Goiter 		Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs28939086
rs28939086 		0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs539699299
rs539699299 		0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs539699299
rs539699299 		0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
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