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: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.800 1.000 0 2015 2017
dbSNP: rs869312821
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.800 0
dbSNP: rs869312823
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.800 0
dbSNP: rs869312825
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.800 1.000 0 2015 2017
dbSNP: rs1553194162
rs1553194162
GNB1
1.000 1 1804496 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2000 2017
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2000 2017
dbSNP: rs758432471
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2000 2017
dbSNP: rs1557898800
rs1557898800
GNB1
1.000 1 1815801 missense variant C/T snv
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 1.000 1 2018 2018
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		0.700 1.000 1 2016 2016
dbSNP: rs758432471
rs758432471
GNB1
0.925 1 1806513 missense variant C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs869312821
rs869312821
GNB1
0.882 0.120 1 1806515 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2016 2016