DisGeNET - a database of gene-disease associations

List of shared variants

Adenoid Cystic Carcinoma, C0010606

Disease: Cutaneous 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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06		31
rs28934874	TP53	0.695	0.480	17	7675161	missense variant	G/A;C;T	snv			21
rs398124146	CREBBP	0.742	0.360	16	3738617	missense variant	G/A;C	snv			12
rs1057519884	CREBBP	0.752	0.240	16	3738616	missense variant	C/A;T	snv			11
rs1057519961	SF3B1	0.851	0.240	2	197402759	missense variant	C/T	snv			4
rs775623976	SF3B1	0.851	0.240	2	197402760	missense variant	G/A;C	snv	4.0E-06		4