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
rs1024708183	MAP2K7	0.925	0.040	19	7909761	missense variant	A/G	snv			4
rs121965059	OAT	0.925	0.080	10	124403892	missense variant	G/A	snv	1.6E-05	7.0E-06	4
rs1372047743	MCM4 ; PRKDC			8	47960120	missense variant	C/T	snv	9.7E-06		3
rs3087468	NTHL1			16	2040233	missense variant	C/A	snv			3
rs1383997	MSC-AS1			8	72005483	intron variant	T/C	snv		0.58	1
rs1395746092	XRCC1 ; PINLYP			19	43575449	missense variant	T/C	snv		7.0E-06	1
rs1431381385	XPC			3	14167204	missense variant	G/A	snv	4.1E-06	1.4E-05	1
rs150547487	SLX4			16	3597425	missense variant	T/C	snv	9.9E-04	4.1E-03	1
rs2824215				21	17063088	intergenic variant	A/C	snv		0.34	1
rs770726832	XPC			3	14170483	missense variant	T/G	snv	5.2E-05		1
rs773629528	XPC ; LSM3			3	14178554	synonymous variant	G/A;C	snv	1.2E-05	7.0E-06	1
rs773632957	ERCC2			19	45368650	missense variant	T/G	snv			1
rs774690269	LSM3 ; XPC			3	14178562	missense variant	G/A;C	snv	1.2E-05		1
rs983889	FBXL7			5	15555377	intron variant	G/T	snv		0.55	1
rs1131691041	TP53			17	7676271	frameshift variant	-/A	delins			3
rs749251734	XPC ; LOC107986063			3	14147981	frameshift variant	GACGATGTATCCA/-	delins			1
rs1486253194	XPC			3	14146063	frameshift variant	CCAGTATCCTGGCC/-	del		7.0E-06	1
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214