DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs10075801	MIR3936HG ; SLC22A4	5	132341949	intron variant	A/G	snv	0.31	5
rs10138752	RAD51B	14	68713254	intron variant	C/T	snv	8.8E-02	5
rs10173538	BAZ2B ; MARCHF7	2	159712765	intron variant	C/G;T	snv		5
rs10206089		2	61476184	intron variant	G/A	snv		4
rs1025687	MAPK4	18	50621423	intron variant	T/C	snv	0.61	3
rs10409243	S1PR2 ; DNMT1	19	10222312	3 prime UTR variant	C/A;G;T	snv		6
rs10858740		12	88451258	intergenic variant	A/G;T	snv	0.56	5
rs10995477	JMJD1C	10	63250912	intron variant	T/C	snv	0.43	4
rs111930700	ACVR1B	12	51967869	intron variant	C/G	snv	8.4E-02	4
rs112505971	ANKRD26	10	27068541	intron variant	A/C;G	snv		13
rs11359909		3	128603031	intergenic variant	G/-	delins	0.89	4
rs114050631		2	218156235	regulatory region variant	C/T	snv	6.9E-03	5
rs11405616	NDFIP1	5	142130697	intron variant	A/-;AA;AAA;AAAA	delins		4
rs11428934	CA11 ; SEC1P	19	48640988	intron variant	-/G	ins		4
rs1144700	ATXN1	6	16744456	intron variant	C/G;T	snv		5
rs11625487	ISM2	14	77495266	intron variant	G/A;C	snv	0.70	2
rs11654074	VMP1	17	59748211	intron variant	A/C	snv	0.40	5
rs11725704		4	74094279	downstream gene variant	A/G	snv	0.28	5
rs11734460	PCGF3	4	711285	intron variant	C/A;T	snv		4
rs11769630		7	50218107	intron variant	T/A	snv	5.4E-02	4
rs11920354	KIF9-AS1	3	47220756	intron variant	C/A	snv	0.34	3
rs11931598	LOC100129931 ; TADA2B	4	7045375	intron variant	C/T	snv	0.55	4
rs12101888	EHD4	15	41939155	intron variant	C/T	snv	0.34	3
rs12239046	NLRP3	1	247438293	intron variant	T/C	snv	0.58	9
rs12266014	PRTFDC1	10	24922362	intron variant	C/T	snv	0.26	7