DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma, C0007137

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
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs72928038	BACH2	0.695	0.360	6	90267049	intron variant	G/A	snv		0.11	19
rs4803750	BCL3	0.807	0.240	19	44744370	upstream gene variant	A/G	snv		7.7E-02	22
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs1460816	BRCA2	1.000	0.040	13	32354271	intron variant	G/A	snv		0.54	1
rs1048638	CA9	0.807	0.160	9	35681125	3 prime UTR variant	C/A;G	snv			10
rs4645978	CASP9 ; DNAJC16	0.827	0.120	1	15525539	intron variant	C/A;T	snv			8
rs987525	CCDC26	0.807	0.160	8	128933908	intron variant	C/A	snv		0.31	7
rs3138035	CCL8	0.882	0.080	17	34318930	upstream gene variant	C/T	snv		0.27	3
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs6413464	CDKN2A	1.000	0.040	9	21970980	missense variant	C/A;G	snv	1.3E-03; 4.1E-06		2
rs116150891	CDKN2A	1.000	0.040	9	21970929	missense variant	G/A;C	snv	5.6E-04	2.6E-03	1
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs1333040	CDKN2B-AS1	0.732	0.280	9	22083405	intron variant	C/G;T	snv			15
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs4822983	CHEK2	0.925	0.080	22	28719078	intron variant	C/T	snv		0.33	3