DisGeNET - a database of gene-disease associations

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
rs505058	LMNA	1.000	0.080	1	156136394	missense variant	T/A;C;G	snv	4.2E-06; 0.12; 4.2E-06		2
rs55745410	PHC2			1	33337216	intron variant	A/G	snv		0.28	2
rs6422513	EVI5			1	92566910	intron variant	G/A;C	snv			2
rs6587515				1	150636412	regulatory region variant	G/A	snv		7.2E-02	2
rs66461782	ZRANB2-AS1 ; ZRANB2 ; MIR186			1	71067604	intron variant	A/T	snv	0.32	0.27	2
rs6662509	H6PD			1	9257545	intron variant	C/T	snv		0.17	2
rs6686842	SCMH1			1	41065199	intron variant	T/C	snv		0.65	2
rs6699417	PKN2-AS1			1	88657760	intron variant	C/T	snv		0.61	2
rs678962	DNM3			1	172220749	intron variant	T/G	snv		0.24	2
rs7532866	LIN28A			1	26415053	intron variant	A/G	snv		0.36	2
rs7552186				1	218821931	intergenic variant	C/T	snv		0.40	2
rs78444298	EDEM3			1	184702964	missense variant	G/A	snv	1.2E-02	1.2E-02	2
rs9428104				1	118312964	intergenic variant	A/G;T	snv			2
rs9438876	RUNX3	1.000	0.040	1	24914625	intron variant	A/G	snv		0.53	2
rs945631	DIPK1A			1	92960610	intron variant	G/A	snv		4.1E-02	2
rs991967	TGFB2-OT1 ; TGFB2			1	218442109	3 prime UTR variant	A/C	snv		0.37	2
rs1006224	C1orf21			1	184572468	intron variant	G/A	snv		0.40	1
rs10157941	PODN			1	53083314	intron variant	C/G	snv		0.25	1
rs10218741	LOC101929750			1	221106893	regulatory region variant	G/A;C	snv			1
rs10305677	ARNT			1	150846616	intron variant	T/A	snv		1.8E-02	1
rs1044145	YOD1 ; PFKFB2			1	207044014	3 prime UTR variant	T/A;C	snv			1
rs10737515	MGST3			1	165630223	upstream gene variant	G/A;C	snv			1
rs10779364	ZC3H11B			1	219614071	upstream gene variant	G/C	snv		0.56	1
rs10793765	LOC105371692			1	204580247	intergenic variant	A/G;T	snv			1
rs10797816	LAMC1			1	183029351	intron variant	A/T	snv		0.54	1