rs752746786, GNB1

N. diseases: 30
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.
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Upper limb hypertonia
CUI: C4021898
Disease: Upper limb hypertonia
4 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
12 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 4 2015 2017