DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasms, C0027651

Disease: melanoma

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
rs1225976306	BRAF ; LOC105375536	0.807	0.160	7	140924673	missense variant	C/T	snv	9.3E-06		8
rs763538721	HIF1A-AS3 ; HIF1A	0.807	0.160	14	61740897	missense variant	T/A	snv	4.0E-06		8
rs1057519874	RAC1	0.807	0.120	7	6387261	missense variant	C/A;T	snv			9
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			9
rs121913513	KIT	0.776	0.120	4	54727495	missense variant	T/C	snv			10
rs12628	LRRC56 ; HRAS	0.776	0.160	11	534242	synonymous variant	A/G	snv	0.32	0.34	10
rs4516035	VDR	0.776	0.360	12	47906043	non coding transcript exon variant	T/C	snv		0.31	10
rs1057519855	HRAS ; LRRC56	0.776	0.120	11	533873	missense variant	CT/AC;TC	mnv			11
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			11
rs121913492	GNAQ	0.790	0.160	9	77794572	missense variant	T/A;C;G	snv			11
rs104894094	CDKN2A	0.763	0.200	9	21971058	missense variant	C/A;G;T	snv	8.5E-06; 4.3E-06		12
rs121913366	BRAF	0.763	0.400	7	140753345	missense variant	A/C;T	snv			12
rs121913369	BRAF	0.790	0.280	7	140753346	missense variant	G/A;C	snv	4.0E-06		12
rs121913407	CTNNB1	0.763	0.240	3	41224645	missense variant	T/C;G	snv			12
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			12
rs121913521	KIT	0.790	0.120	4	54727447	missense variant	T/A;C;G	snv			12
rs3088440	CDKN2A ; CDKN2A-DT	0.776	0.240	9	21968160	3 prime UTR variant	G/A	snv		0.13	12
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	17
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20