GNB1, G protein subunit beta 1, 2782

N. diseases: 34; N. variants: 11
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs752746786
rs752746786 		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 		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 		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 		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: rs1557898800
rs1557898800 		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: rs1135401746
rs1135401746 		0.827 0.400 1 1806512 missense variant C/G snv
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 0