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: rs869312669
rs869312669
GRIN2B
1.000 12 13571922 missense variant T/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs869312669
rs869312669
GRIN2B
1.000 12 13571922 missense variant T/G snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0