DisGeNET - a database of gene-disease associations

List of associated variants

melanoma, C0025202

Source: CLINVAR ×

Results per page

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		10
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			25
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			11
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	3
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			16
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		12
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			20
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			1
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		14
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			1
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	1
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1