Neurodevelopmental Delay

Other 318 variants 42 genes

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Associated Genes (42)

GNB1 KCNB1 PAFAH1B1 DYNC1H1 KIF1A TBC1D24 PTEN MAGEL2 MEA1;PPP2R5D ACTB NSD1 ATP6V1B2 STXBP1 BRIP1 SHANK3 NF1 FBXL4 CLASP1;CLASP1-AS1;RNU4ATAC POLK ADCY5 NGLY1 CSNK2A1 HNRNPH2 ZBTB7A SMAD4 SPART NDUFS3 TWIST1 CACNA1A FLNA MECP2 POLG FGFR3 SPRED1 SRCAP ATP1A3 PRRT2 BRAF BRCA2 AMT ALG13 EP300

Associated Variants (318)

RSID	Gene	Risk Allele	Odds Ratio	Evidence
RS752746786	GNB1	—	—	strong
RS587777848	KCNB1	—	—	strong
RS587784241	PAFAH1B1	—	—	strong
RS713993043	DYNC1H1	—	—	strong
RS672601362	KIF1A	—	—	strong
RS765965968	TBC1D24	—	—	strong
RS121913293	PTEN	—	—	strong
RS770374710	MAGEL2	—	—	strong
RS863225082	MEA1;PPP2R5D	—	—	strong
RS786205585	ACTB	—	—	strong
RS794727176	NSD1	—	—	strong
RS794729667	ATP6V1B2	—	—	strong
RS796053355	STXBP1	—	—	strong
RS374334794	BRIP1	—	—	strong
RS762292772	SHANK3	—	—	strong
RS797045139	NF1	—	—	strong
RS200440128	FBXL4	—	—	strong
RS370715569	CLASP1;CLASP1-AS1;RNU4ATAC	—	—	strong
RS148960463	POLK	—	—	strong
RS864309515	ADCY5	—	—	strong
RS201791209	NGLY1	—	—	strong
RS758432471	GNB1	—	—	strong
RS869312840	CSNK2A1	—	—	strong
RS886039763	HNRNPH2	—	—	strong
RS1555693029	ZBTB7A	—	—	strong
RS281875322	SMAD4	—	—	strong
RS775736341	SPART	—	—	strong
RS28939714	NDUFS3	—	—	strong
RS104894054	TWIST1	—	—	strong
RS121909326	CACNA1A	—	—	strong
RS137853311	FLNA	—	—	strong
RS28934904	MECP2	—	—	strong
RS28934906	MECP2	—	—	strong
RS28935468	MECP2	—	—	strong
RS61749721	MECP2	—	—	strong
RS113994095	POLG	—	—	strong
RS28933068	FGFR3	—	—	strong
RS77722678	FGFR3	—	—	strong
RS121434312	SPRED1	—	—	strong
RS199469464	SRCAP	—	—	strong
RS387907281	ATP1A3	—	—	strong
RS587778771	PRRT2	—	—	strong
RS397507466	BRAF	—	—	strong
RS397516892	BRAF	—	—	strong
RS81002806	BRCA2	—	—	strong
RS386833677	AMT	—	—	strong
RS386833683	AMT	—	—	strong
RS398122394	ALG13	—	—	strong
RS121908247	CACNA1A	—	—	strong
RS886037664	EP300	—	—	strong

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