DisGeNET - a database of gene-disease associations

List of associated variants

Endometriosis, C0014175

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
rs10953316	MUC17	1.000	0.040	7	101038481	synonymous variant	A/C;G;T	snv	8.0E-06; 0.64		1
rs500760	PGR	0.882	0.120	11	101039260	synonymous variant	T/C	snv	0.24	0.29	3
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs7561460	IL1R2	1.000	0.040	2	102000742	intron variant	T/C	snv		0.43	2
rs2072472	IL1R2	0.732	0.200	2	102026557	intron variant	A/G	snv		0.24	13
rs1536309	MIR146B	0.851	0.160	10	102435445	upstream gene variant	A/G	snv		0.32	7
rs2475335	PTPRD	0.882	0.080	9	10260263	intron variant	C/A;T	snv			3
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs116250606	CALHM3	1.000	0.040	10	103473496	missense variant	C/T	snv	6.5E-06; 4.1E-03	2.3E-02	1
rs12720356	TYK2	0.752	0.360	19	10359299	missense variant	A/C;G	snv	6.1E-02; 4.0E-06		12
rs12720270	TYK2	0.851	0.240	19	10365084	intron variant	G/A	snv	0.21	0.16	4
rs280523	TYK2	0.925	0.120	19	10366530	synonymous variant	G/A;C	snv	7.2E-02; 4.0E-06		2
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs7907606		0.790	0.120	10	103920874	upstream gene variant	T/G	snv		0.26	8
rs113850637		1.000	0.040	3	104131556	intergenic variant	C/T	snv		0.14	1
rs498679	ATG5	1.000	0.040	6	106122200	intron variant	T/A;C	snv			1
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs10794288	MUC2	1.000	0.040	11	1086825	non coding transcript exon variant	C/G;T	snv			1
rs10902088	MUC2	1.000	0.040	11	1090036	non coding transcript exon variant	T/C	snv		0.73	2
rs1805097	IRS2	0.689	0.360	13	109782884	missense variant	C/G;T	snv	0.35		22
rs11245954	MUC2	1.000	0.040	11	1107170	non coding transcript exon variant	A/G	snv	6.7E-02	8.9E-02	1
rs6542095		1.000	0.040	2	112771606	downstream gene variant	C/A;T	snv			1