Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167298
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0