DisGeNET - a database of gene-disease associations

List of associated variants

Blast Phase, C0005699

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs748843032	MTTP	0.807	0.160	4	99594840	missense variant	T/C	snv	4.0E-06		8
rs121908587	PDGFRA	0.827	0.120	4	54278380	missense variant	C/T	snv			6
rs1057519773	ABL1	0.851	0.160	9	130872901	missense variant	T/A;C;G	snv			4
rs121913451	ABL1	0.851	0.160	9	130872903	missense variant	C/A;G	snv			4
rs1060500091	GATA2	0.882	0.120	3	128481887	missense variant	A/C	snv			4
rs141157255	APAF1	0.882	0.120	12	98659331	missense variant	G/A	snv	4.0E-05	2.8E-05	3
rs1407906280	MDM2	0.882	0.120	12	68839467	missense variant	C/T	snv	4.0E-06	7.0E-06	3