DisGeNET - a database of gene-disease associations

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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
rs3830041	NOTCH4	0.752	0.280	6	32223562	intron variant	C/T	snv		0.11	9
rs115344853	NOTCH4	1.000	0.040	6	32197667	intron variant	A/G	snv			2
rs115963308	NOTCH4	1.000	0.040	6	32223264	intron variant	G/A;C	snv			2
rs2071286	NOTCH4	0.752	0.280	6	32212119	intron variant	C/T	snv		0.17	2
rs3132947	NOTCH4	1.000	0.120	6	32209005	intron variant	G/T	snv		0.19	2
rs404860	NOTCH4	0.925	0.160	6	32216568	non coding transcript exon variant	T/C	snv		0.21	1
rs147499485	NOTCH4			6	32216247	non coding transcript exon variant	C/A;T	snv			1
rs3132935	NOTCH4	0.925	0.160	6	32203298	non coding transcript exon variant	A/G;T	snv			1
rs3131296	NOTCH4	0.807	0.320	6	32205216	intron variant	C/T	snv		0.11	1
rs443198	NOTCH4	0.851	0.200	6	32222629	synonymous variant	A/G	snv	0.38	0.39	1
rs138753323	NOTCH4	1.000	0.040	6	32205822	intron variant	T/C	snv		1.8E-02	1
rs115695709	NOTCH4			6	32223562	intron variant	C/T	snv			1
rs35565902	NOTCH4			6	32222211	intron variant	TCT/-	delins		0.26	1
rs2071277	NOTCH4	0.882	0.200	6	32203906	intron variant	T/C	snv	0.48	0.46	1
rs422951	NOTCH4	0.807	0.280	6	32220606	missense variant	T/C	snv	0.40	0.40	1
rs2071278	NOTCH4	1.000	0.120	6	32197667	intron variant	A/G	snv		0.13	1
rs3096702	NOTCH4	0.925	0.080	6	32224554	upstream gene variant	A/G;T	snv			1
rs41270472	NOTCH4			6	32213740	synonymous variant	A/C;T	snv	2.3E-02		1
rs3134931	NOTCH4			6	32222843	intron variant	T/C	snv	0.35	0.37	1
rs16869834	NOTCH4			6	32211932	intron variant	A/G	snv		5.5E-02	1