Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518800
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs1057518800
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2007 2017
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C0233844
Disease: Clumsiness
Clumsiness 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886041095
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0