Epileptic Encephalopathy

Other 266 variants 23 genes

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Associated Genes (23)

SOX5 SCN8A ATP1A2 HNRNPU PHGDH GNAO1 KCNQ2 FOLR1 WWOX CDKL5 STXBP1 SLC35A2 AP3B2 USP19 GABBR2 ATP7B ARX SCN2A KCNB1 MTRFR SCN1A UBE3A KCTD7

Associated Variants (266)

RSID	Gene	Risk Allele	Odds Ratio	Evidence
RS1057518928	SOX5	—	—	strong
RS879255709	SCN8A	—	—	strong
RS886039530	ATP1A2	—	—	strong
RS1135401734	HNRNPU	—	—	strong
RS1135401733	HNRNPU	—	—	strong
RS1135401732	HNRNPU	—	—	strong
RS779453109	HNRNPU	—	—	strong
RS886041874	PHGDH	—	—	strong
RS886041715	GNAO1	—	—	strong
RS1057516099	KCNQ2	—	—	strong
RS1057516094	KCNQ2	—	—	strong
RS764618040	PHGDH	—	—	strong
RS1057518816	FOLR1	—	—	strong
RS796053228	SCN8A	—	—	strong
RS759766243	WWOX	—	—	strong
RS1057518795	WWOX	—	—	strong
RS1057518759	CDKL5	—	—	strong
RS1057518985	STXBP1	—	—	strong
RS1057519000	SLC35A2	—	—	strong
RS1057519189	STXBP1	—	—	strong
RS1057519269	AP3B2	—	—	strong
RS1057519270	AP3B2	—	—	strong
RS1057519452	USP19	—	—	strong
RS375659415	USP19	—	—	strong
RS1309000004	GABBR2	—	—	strong
RS72552259	ATP7B	—	—	strong
RS104894745	ARX	—	—	strong
RS118192235	KCNQ2	—	—	strong
RS118192211	KCNQ2	—	—	strong
RS387906686	SCN2A	—	—	strong
RS267608501	CDKL5	—	—	strong
RS587777848	KCNB1	—	—	strong
RS587783185	ARX	—	—	strong
RS587783192	ARX	—	—	strong
RS587783196	ARX	—	—	strong
RS587783200	ARX	—	—	strong
RS587783203	ARX	—	—	strong
RS587783204	ARX	—	—	strong
RS587776508	MTRFR	—	—	strong
RS201497300	ATP7B	—	—	strong
RS786204967	CDKL5	—	—	strong
RS794726754	SCN1A	—	—	strong
RS794727444	SCN2A	—	—	strong
RS863225068	UBE3A	—	—	strong
RS796053130	SCN2A	—	—	strong
RS796053083	SCN1A	—	—	strong
RS199624315	KCTD7	—	—	strong
RS796053366	STXBP1	—	—	strong
RS796053367	STXBP1	—	—	strong
RS796053216	SCN8A	—	—	strong

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