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
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs863225281	ALK	0.776	0.200	2	29220829	missense variant	G/C;T	snv			12
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs983889	FBXL7			5	15555377	intron variant	G/T	snv		0.55	1
rs749251734	XPC ; LOC107986063			3	14147981	frameshift variant	GACGATGTATCCA/-	delins			1
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1057520007	TP53	0.701	0.440	17	7674917	missense variant	T/A;C;G	snv			21
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs2232365	FOXP3	0.716	0.480	X	49259429	intron variant	T/C	snv			16
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
rs150547487	SLX4			16	3597425	missense variant	T/C	snv	9.9E-04	4.1E-03	1
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs770726832	XPC			3	14170483	missense variant	T/G	snv	5.2E-05		1
rs773632957	ERCC2			19	45368650	missense variant	T/G	snv			1
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35