Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041095
rs886041095
GRIN2B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 GeneticVariation CLINVAR