Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1462161137
rs1462161137
METTL23
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 24626631

2014
dbSNP: rs1462161137
rs1462161137
METTL23
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR METTL23, a transcriptional partner of GABPA, is essential for human cognition. 24501276

2014