rs1114167301, GRM7

N. diseases: 6
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.
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
CNS hypomyelination
CUI: C4025616
Disease: CNS hypomyelination
6 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0