rs797044849, GRIN2B

N. diseases: 17
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 18 2007 2017
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
49 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Coxa valga
CUI: C0239137
Disease: Coxa valga
5 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
39 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
125 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
21 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
120 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0