rs869312821, GNB1

N. diseases: 7
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
12 0.882 0.120 1 1806515 missense variant T/C snv 0.800 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.882 0.120 1 1806515 missense variant T/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.120 1 1806515 missense variant T/C snv 0.700 0