Congenital Cerebellar Hypoplasia

Other 44 variants 30 genes

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Associated Genes (30)

RARS2 BCL11A AUTS2 FZD3 FGFR1 TUBA1A TMLHE DDX3X CASK KIF4A ATAD3A OXR1 PMM2 ARID1B MSTO1 CIC PLA2G6 L1CAM STXBP1 TUBB2A KIAA0586 TSEN54 FOXP1 ATP13A2 SETD2 DKC1 COASY SPTAN1 WDR37 AHDC1

Associated Variants (44)

RSID	Gene	Risk Allele	Odds Ratio	Evidence
RS750433723	RARS2	—	—	strong
RS1558519119	BCL11A	—	—	strong
RS1258569046	RARS2	—	—	strong
RS1563183469	AUTS2	—	—	strong
RS1563406024	FZD3	—	—	strong
RS1563436265	FGFR1	—	—	strong
RS1565627707	TUBA1A	—	—	strong
RS782785654	TMLHE	—	—	strong
RS1569240005	DDX3X	—	—	strong
RS1569295677	CASK	—	—	strong
RS1569234334	KIF4A	—	—	strong
RS1558612412	BCL11A	—	—	strong
RS1569291261	CASK	—	—	strong
RS1569380062	CASK	—	—	strong
RS1570345942	ATAD3A	—	—	strong
RS1587174071	OXR1	—	—	strong
RS1587302415	OXR1	—	—	strong
RS1596489887	PMM2	—	—	strong
RS2115002258	ARID1B	—	—	strong
RS764871960	MSTO1	—	—	strong
RS145739822	OXR1	—	—	strong
RS752136581	CIC	—	—	strong
RS796052231	DDX3X	—	—	strong
RS121908681	PLA2G6	—	—	strong
RS28936415	PMM2	—	—	strong
RS137852526	L1CAM	—	—	strong
RS80338703	PMM2	—	—	strong
RS398123695	STXBP1	—	—	strong
RS886037663	TUBB2A	—	—	strong
RS794727270	CASK	—	—	strong
RS794727970	STXBP1	—	—	strong
RS534542684	KIAA0586	—	—	strong
RS770566897	KIAA0586	—	—	strong
RS113994152	TSEN54	—	—	strong
RS532329866	FOXP1	—	—	strong
RS189334432	ATP13A2	—	—	strong
RS1057523157	SETD2	—	—	strong
RS1057520719	DKC1	—	—	strong
RS560987504	COASY	—	—	strong
RS1131691643	SPTAN1	—	—	strong
RS1554823375	WDR37	—	—	strong
RS1553709881	FOXP1	—	—	strong
RS1555975523	CASK	—	—	strong
RS1557667078	AHDC1	—	—	strong