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: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 0