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
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs10818524	GSN	1.000	0.040	9	121267901	intron variant	T/C	snv		0.37	1
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs11707807	LPP	1.000	0.040	3	188370473	intron variant	A/G	snv		0.36	1
rs1801321	RAD51 ; RAD51-AS1	0.790	0.160	15	40695367	5 prime UTR variant	G/C;T	snv		0.35	8
rs7242481	ELP2 ; SLC39A6	0.925	0.080	18	36129254	5 prime UTR variant	G/A	snv		0.35	2
rs1246946		0.851	0.040	6	4979722	downstream gene variant	C/T	snv		0.34	4
rs4822983	CHEK2	0.925	0.080	22	28719078	intron variant	C/T	snv		0.33	3
rs8063761	DEF8	1.000	0.040	16	89961218	intron variant	A/T	snv		0.33	1
rs7853346	PTENP1-AS ; PTENP1	0.851	0.200	9	33676096	non coding transcript exon variant	C/G	snv	0.28; 1.2E-05	0.32	6
rs10491121	LOC101927369 ; CCL4	0.882	0.120	17	36102943	upstream gene variant	G/A	snv		0.32	5
rs2847281	PTPN2	1.000	0.040	18	12821594	intron variant	A/G	snv		0.32	3
rs987525	CCDC26	0.807	0.160	8	128933908	intron variant	C/A	snv		0.31	7
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs17568	TNFRSF4	0.752	0.320	1	1212042	synonymous variant	C/T	snv	0.37	0.31	12
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs1050631	SLC39A6	0.882	0.080	18	36114157	synonymous variant	G/A	snv	0.33	0.30	4
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs4268748	DEF8	0.925	0.080	16	89960104	intron variant	T/C	snv		0.30	3
rs5854	MMP1 ; WTAPP1	1.000	0.040	11	102790143	3 prime UTR variant	G/A	snv		0.29	1
rs17761864	SMG6	1.000	0.040	17	2268343	intron variant	C/A	snv		0.28	2
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32