DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: Primary malignant neoplasm of lung

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
rs1057519729	MAP2K1	0.827	0.080	15	66435113	missense variant	A/C	snv			6
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	17
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs2036534	HYKK	0.827	0.080	15	78534606	3 prime UTR variant	T/C	snv		0.26	8
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs36115365		0.807	0.160	5	1313127	upstream gene variant	G/A;C;T	snv			7
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134