GNB1, G protein subunit beta 1, 2782

N. diseases: 34; N. variants: 11
Disease: Developmental regression ×
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: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825 		0.827 0.120 1 1804548 start lost T/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2016 2016