Global Developmental Delay

Other 414 variants 37 genes

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Associated Genes (37)

PURA SCN1A FLNA SRD5A3 AHDC1 TUBB4A RLIM CACNA1A NIPBL TUBA1A NDST1 DYRK1A ZNF148 KANSL1 TSEN54 HEXA PLA2G6 RAPSN CUL4B MECP2 GLDC POLG FOXG1 MGAT2 RBM8A AHI1 MTO1 ATP1A3 CYP2U1 PACS1 DDHD2 AKT3 FARS2 MFF CAMK2G PTPN11 FBXL4

Associated Variants (414)

RSID	Gene	Risk Allele	Odds Ratio	Evidence
RS587782995	PURA	—	—	strong
RS121917984	SCN1A	—	—	strong
RS398123614	FLNA	—	—	strong
RS398124401	SRD5A3	—	—	strong
RS587779766	AHDC1	—	—	strong
RS587779767	AHDC1	—	—	strong
RS587779768	AHDC1	—	—	strong
RS587777428	TUBB4A	—	—	strong
RS786205133	RLIM	—	—	strong
RS587782991	PURA	—	—	strong
RS587782992	PURA	—	—	strong
RS587782993	PURA	—	—	strong
RS587782994	PURA	—	—	strong
RS121908247	CACNA1A	—	—	strong
RS587782996	PURA	—	—	strong
RS587782997	PURA	—	—	strong
RS587782998	PURA	—	—	strong
RS587782999	PURA	—	—	strong
RS587783000	PURA	—	—	strong
RS587783001	PURA	—	—	strong
RS587784000	NIPBL	—	—	strong
RS587784491	TUBA1A	—	—	strong
RS606231459	NDST1	—	—	strong
RS724159949	DYRK1A	—	—	strong
RS147223574	ZNF148	—	—	strong
RS281865469	KANSL1	—	—	strong
RS113994152	TSEN54	—	—	strong
RS28941770	HEXA	—	—	strong
RS121908681	PLA2G6	—	—	strong
RS104894293	RAPSN	—	—	strong
RS121434616	CUL4B	—	—	strong
RS61748421	MECP2	—	—	strong
RS121964976	GLDC	—	—	strong
RS113994094	POLG	—	—	strong
RS113994096	POLG	—	—	strong
RS267606826	FOXG1	—	—	strong
RS730882218	MGAT2	—	—	strong
RS201779890	RBM8A	—	—	strong
RS121434350	AHI1	—	—	strong
RS143747297	MTO1	—	—	strong
RS387907281	ATP1A3	—	—	strong
RS397514513	CYP2U1	—	—	strong
RS398123009	PACS1	—	—	strong
RS375168720	DDHD2	—	—	strong
RS587776935	AKT3	—	—	strong
RS397514610	FARS2	—	—	strong
RS397514615	MFF	—	—	strong
RS397514627	CAMK2G	—	—	strong
RS397507520	PTPN11	—	—	strong
RS398123061	FBXL4	—	—	strong

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