DisGeNET - a database of gene-disease associations

List of associated variants

Familial multiple trichoepitheliomata, C1275122

Source: ALL

Results per page

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs6214	LINC02456 ; HELLPAR ; IGF1	0.672	0.400	12	102399791	3 prime UTR variant	C/T	snv		0.45	26
rs917997		0.701	0.480	2	102454108	downstream gene variant	T/A;C	snv			20
rs786201059	TP53	0.701	0.360	17	7673764	stop gained	C/A;G;T	snv			20
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs2305764	MYO9B	0.776	0.360	19	17203024	non coding transcript exon variant	G/A	snv	0.52	0.50	10
rs9257809	OR12D3 ; OR5V1	0.790	0.320	6	29388554	intron variant	A/G	snv		5.8E-02	10
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv		0.78	9
rs121908390	CYLD ; LOC105371251	0.807	0.200	16	50796443	stop gained	C/G;T	snv	4.0E-06		8
rs9936833		0.882	0.160	16	86369512	intergenic variant	C/T	snv		0.64	6
rs3784262	ALDH1A2	0.882	0.160	15	57960908	intron variant	T/A;C	snv			6
rs12268840	MGMT	0.827	0.200	10	129527035	intron variant	C/T	snv		0.22	6
rs121908388	CYLD ; LOC105371251	0.925	0.120	16	50792627	stop gained	C/T	snv			4
rs139429793	EGFR	0.925	0.120	7	55155928	missense variant	G/A	snv	1.6E-05	1.4E-05	4
rs377767360	SMAD4	0.882	0.240	18	51076662	stop gained	C/T	snv	4.0E-06		4