DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of the head and neck, C1168401

Disease: Esophageal carcinoma

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	AF GENOME	Num. diseases
rs121912655	TP53	0.724	0.400	17	7674238	missense variant	C/A;G;T	snv			15
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		20
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			18
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		25
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs148924904	TP53	0.724	0.360	17	7675124	missense variant	T/C	snv		7.0E-06	17
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			12
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			14
rs193920774	TP53	0.695	0.440	17	7673823	missense variant	C/A;T	snv			21
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		24
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			25
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs28934874	TP53	0.695	0.480	17	7675161	missense variant	G/A;C;T	snv			21
rs375874539	TP53	0.732	0.320	17	7674237	missense variant	G/A;C	snv			11
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv			13
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			26
rs483352697	TP53	0.695	0.480	17	7674944	missense variant	C/A;G;T	snv	4.0E-06		17
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06		25
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06		23