DisGeNET - a database of gene-disease associations

List of shared variants

Malignant Uterine Corpus Neoplasm, C0153574

Disease: Cutaneous Melanoma

Source: CLINVAR ×

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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	Num. diseases
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv		20
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv		17
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv		28
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv		11
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv		10
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv		14
rs530941076	TP53	0.695	0.280	17	7674873	missense variant	A/C;G;T	snv	4.0E-06	20
rs876660821	TP53	0.689	0.400	17	7675075	missense variant	A/C;G;T	snv		21
rs1057519841	PIK3R1	0.925	0.120	5	68295269	missense variant	A/G	snv		5
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv		7
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	45
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv		20
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv		23
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv		30
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
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	42
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06	12
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv		12
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv		17
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv		9
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05	39
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv		6
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06	25
rs730882008	TP53	0.683	0.440	17	7673775	missense variant	C/A;G;T	snv	4.0E-06	22