Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		A 0.700 GeneticVariation CLINVAR