TSHZ1, teashirt zinc finger homeobox 1, 10194

N. diseases: 99; N. variants: 7
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: rs730882069
rs730882069 		1.000 0.040 18 75286488 frameshift variant -/A ins
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs730882070
rs730882070 		1.000 0.040 18 75286265 stop gained G/A snv
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1345191484
rs1345191484 		0.925 0.160 18 75286334 synonymous variant C/T snv 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1345191484
rs1345191484 		0.925 0.160 18 75286334 synonymous variant C/T snv 4.0E-06
CUI: C0035455
Disease: Rhinitis
Rhinitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1453340173
rs1453340173 		18 75286531 missense variant C/T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs183334241
rs183334241 		0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs183334241
rs183334241 		0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs199698194
rs199698194 		1.000 0.080 18 75285544 start lost T/C snv 8.6E-05 9.1E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs78081605
rs78081605 		0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs78081605
rs78081605 		0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2010 2010