DisGeNET - a database of gene-disease associations

List of associated variants

melanoma, C0025202

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
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			41
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			37
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs121913254	NRAS	0.658	0.440	1	114713909	stop gained	G/A;C;T	snv			31
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31