Disease: Gonadal dysgenesis XX type 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: rs199589947
rs199589947 		0.882 0.280 3 45496316 missense variant C/A snv 3.0E-04 2.5E-04
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2017 2017
dbSNP: rs786205560
rs786205560 		1.000 0.280 3 45419670 missense variant A/C snv
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs773142741
rs773142741 		1.000 0.280 3 45488769 missense variant A/G snv 8.0E-06
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017