DisGeNET - a database of gene-disease associations

List of shared variants

Epilepsy, C0014544

Disease: Malignant neoplasm of breast

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs7439366	UGT2B7	0.752	0.320	4	69098620	missense variant	T/C	snv	0.56	0.57	16
rs386675647	UGT2B7	0.790	0.240	4	69098619	missense variant	AT/TC	mnv			10
rs3903529	RORB	0.882	0.120	9	74649312	intron variant	T/A	snv		0.23	3