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: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.800 1.000 3 2015 2015
dbSNP: rs863225079
rs863225079 		1.000 6 43007271 missense variant G/A snv
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.800 1.000 2 2015 2015
dbSNP: rs869320691
rs869320691 		1.000 6 43007292 missense variant T/A;C snv
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.800 1.000 2 2015 2015
dbSNP: rs876657383
rs876657383 		1.000 6 43007275 missense variant C/G snv
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.800 1.000 2 2015 2015
dbSNP: rs863225080
rs863225080 		1.000 6 43009328 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1996 2016
dbSNP: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1996 2016
dbSNP: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 1996 2016
dbSNP: rs1131691266
rs1131691266 		1.000 6 43007966 missense variant G/A snv 8.0E-06
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 0
dbSNP: rs757369209
rs757369209 		1.000 6 43006514 missense variant C/A;T snv 8.0E-06
CUI: C4225354
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.700 0
dbSNP: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C0241210
Disease: Speech Delay
Speech Delay 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs863225082
rs863225082 		0.827 0.160 6 43007265 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0