rs758432471, GNB1

N. diseases: 4
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 1 1806513 missense variant C/T snv 7.0E-06 0.700 1.000 5 2000 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 1 1806513 missense variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
12 0.925 1 1806513 missense variant C/T snv 7.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 1 1806513 missense variant C/T snv 7.0E-06 0.700 0