DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Non-Small Cell Lung Carcinoma

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
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11662595	HRH4	0.882	0.120	18	24477006	missense variant	A/G	snv	8.6E-02	7.6E-02	7
rs11943456	TMEM165	0.708	0.320	4	55410167	intron variant	T/C	snv		0.42	18
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs12220909	MIR4293 ; FRMD4A	0.827	0.240	10	14383222	mature miRNA variant	G/C;T	snv	4.9E-03		5
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs13312840	NBN	0.882	0.120	8	89985681	intron variant	A/G;T	snv			3
rs13347	CD44	0.763	0.320	11	35231725	3 prime UTR variant	C/A;T	snv			12