GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
Disease: Barakat syndrome ×
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: rs104894163
rs104894163 		1.000 0.240 10 8064037 missense variant T/A snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 3 2000 2015
dbSNP: rs104894164
rs104894164 		1.000 0.240 10 8073787 stop gained C/T snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2020 2020
dbSNP: rs104894162
rs104894162 		1.000 0.240 10 8064043 stop gained C/T snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894165
rs104894165 		0.925 0.240 10 8073747 missense variant A/G;T snv 4.0E-06
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564405163
rs1564405163 		0.807 0.280 10 8073746 missense variant G/C snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906551
rs387906551 		1.000 0.240 10 8064140 splice donor variant T/GCTTACTTCCC delins
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906621
rs387906621 		1.000 0.240 10 8069573 missense variant G/A snv
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853222
rs878853222 		1.000 0.240 10 8058727 frameshift variant -/ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC delins
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs751874713
rs751874713 		1.000 0.240 10 8069510 missense variant G/C snv 4.0E-06
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2011 2011