DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, C0007097

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
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs917411291	GZMM	0.851	0.360	19	544072	start lost	A/C;G	snv			9
rs917570055	GZMM	0.882	0.360	19	547342	start lost	A/G	snv			7
rs1057520039	STK11	0.882	0.200	19	1207169	stop gained	C/G;T	snv			4
rs2229080	DCC	0.742	0.320	18	52906232	missense variant	C/A;G	snv	0.45		16
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			21
rs372043866	ERBB2	0.732	0.240	17	39727965	missense variant	G/A;C;T	snv	3.2E-05; 2.4E-05; 1.2E-05		18
rs368094521	MIR4728 ; ERBB2	0.925	0.120	17	39724861	missense variant	G/A	snv	1.2E-03	2.6E-04	5
rs863224683	TP53			17	7675224	missense variant	G/A;C	snv			4
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs1057519736	IDH2	0.752	0.160	15	90088605	missense variant	C/G	snv			13
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs1383461329	KMT5A	1.000	0.120	12	123389469	missense variant	C/T	snv		1.4E-05	2