DisGeNET - a database of gene-disease associations

List of associated variants

Primary malignant neoplasm of lung, C1306460

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
rs624366	ATM	0.827	0.120	11	108283370	intron variant	G/C	snv		0.52	6
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs1878022	CMKLR1	0.851	0.080	12	108305255	intron variant	C/T	snv		0.70	4
rs11212592	ATM ; C11orf65	0.882	0.080	11	108348120	intron variant	A/G	snv		0.16	3
rs664143	C11orf65 ; ATM	0.807	0.160	11	108354934	3 prime UTR variant	A/G;T	snv			8
rs652311	C11orf65 ; ATM	0.882	0.080	11	108369342	intron variant	G/A	snv		0.54	3
rs4978754	ELP1	0.851	0.080	9	108884801	intron variant	T/C	snv		0.92	4
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
rs7483	GSTM3 ; GSTM5	0.742	0.320	1	109737079	missense variant	C/T	snv	4.0E-06; 0.35	0.26	11
rs774352237	TCHP	0.882	0.080	12	109908873	missense variant	G/A	snv	3.2E-05	2.1E-05	4
rs770178049	TCHP	0.882	0.080	12	109912997	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		3
rs1436919825	EGF	0.882	0.080	4	109976175	missense variant	G/A	snv			3
rs465646	REV3L ; MFSD4B	0.882	0.080	6	111299555	3 prime UTR variant	G/A	snv		0.80	3
rs459809	REV3L ; MFSD4B	0.882	0.080	6	111331964	intron variant	T/C	snv		0.71	3
rs1002481	REV3L ; MFSD4B	0.882	0.080	6	111390819	intron variant	T/A;G	snv			3
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs5744256	IL18	0.827	0.120	11	112152125	intron variant	A/G	snv		0.16	6
rs12241008	VTI1A	0.716	0.160	10	112520943	intron variant	T/C	snv		0.13	16
rs763375936	ATG3	0.827	0.160	3	112532749	missense variant	C/T	snv	8.3E-06	7.0E-06	5
rs772776695	ATG3	0.827	0.160	3	112548576	missense variant	T/A	snv	4.0E-06		5
rs10506868	VTI1A	0.716	0.160	10	112559621	intron variant	C/T	snv		3.1E-02	16
rs11196067	VTI1A	0.752	0.160	10	112709306	intron variant	A/T	snv		0.32	10
rs7086803	VTI1A	0.763	0.160	10	112738717	intron variant	G/A	snv		0.20	9