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: rs730882213
rs730882213 		0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882213
rs730882213 		0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs730882213
rs730882213 		0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 0
dbSNP: rs746859902
rs746859902 		1.000 19 1912141 frameshift variant -/GAGCCCGG delins 1.2E-05 7.0E-06
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 0
dbSNP: rs730882213
rs730882213 		0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019