DisGeNET - a database of gene-disease associations

Source: BEFREE

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	Num. diseases
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06	484
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75	246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05	237
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06	221
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv		213
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		213
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04	181
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06	135
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv		117
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06	114
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29	110
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04	106
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06	102
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06	100
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63	98
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02	97
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06	83
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv		82
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv		79
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06	79