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: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 1.000 2 2017 2018
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1837732
Disease: Thickened helices
Thickened helices 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C4023422
Disease: Long palm
Long palm 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0004158
Disease: Athetosis
Athetosis 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0026961
Disease: Mydriasis
Mydriasis 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 0