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
rs12296850		0.925	0.080	12	100426307	downstream gene variant	A/G	snv		8.7E-02	3
rs5491	ICAM1	0.827	0.160	19	10274864	missense variant	A/G;T	snv	4.0E-06; 2.8E-02		6
rs5854	MMP1 ; WTAPP1	1.000	0.040	11	102790143	3 prime UTR variant	G/A	snv		0.29	1
rs2071230	WTAPP1 ; MMP1	0.882	0.080	11	102790228	3 prime UTR variant	A/G	snv		0.15	3
rs470558	MMP1 ; WTAPP1	1.000	0.040	11	102795585	synonymous variant	T/C	snv	0.92	0.95	1
rs281432	ICAM1	0.851	0.280	19	10279982	intron variant	C/G	snv		0.52	12
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs2498801	LOC102723342 ; AKT1	0.790	0.120	14	104769221	upstream gene variant	T/C	snv		0.41	7
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs2233914	FKBP15 ; SLC31A1	1.000	0.040	9	113221260	5 prime UTR variant	G/A	snv	0.16	0.13	1
rs10759637	SLC31A1 ; CDC26	1.000	0.040	9	113262744	3 prime UTR variant	A/C	snv		0.47	2
rs1057519824	MET	0.807	0.120	7	116783374	missense variant	T/G	snv			10
rs804270	NEIL2	0.882	0.080	8	11770112	5 prime UTR variant	G/C;T	snv			3
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs7250795	ZNF763 ; ZNF69	1.000	0.040	19	11978928	missense variant	C/G;T	snv	4.0E-06; 1.7E-02		1
rs1458974438	STK11	0.807	0.080	19	1206957	missense variant	G/A	snv			9