rs796052505, GABRG2

N. diseases: 57
Source: ALL
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.
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
10 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 1.000 2 2017 2018
Abnormal conjugate eye movement
CUI: C1845274
Disease: Abnormal conjugate eye movement
5 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Abnormal finger flexion creases
CUI: C1859481
Disease: Abnormal finger flexion creases
1 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Abnormality of the vertebral spinous processes
CUI: C4024661
Disease: Abnormality of the vertebral spinous processes
1 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
amniotic fluid meconium stained
CUI: C0426209
Disease: amniotic fluid meconium stained
4 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Athetosis
CUI: C0004158
Disease: Athetosis
3 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Bilateral coxa valga
CUI: C3810018
Disease: Bilateral coxa valga
3 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Chorea
CUI: C0008489
Disease: Chorea
20 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Eversion of lower lip
CUI: C1853246
Disease: Eversion of lower lip
3 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Exaggerated cupid's bow
CUI: C1850629
Disease: Exaggerated cupid's bow
6 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
FEBRILE CONVULSIONS, FAMILIAL, 8
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
13 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
High anterior hairline
CUI: C3276036
Disease: High anterior hairline
3 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
Hyperextensibility of the finger joints
CUI: C1844577
Disease: Hyperextensibility of the finger joints
5 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0