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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs2958557	SH2D4A ; LOC102724881			8	19394168	intron variant	T/C	snv		1.00	1
rs4758675	DIABLO ; B3GNT4			12	122207191	missense variant	C/A;G	snv	1.00	0.99	1
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6
rs7955371	WNK1			12	885321	missense variant	G/C	snv	1.00	0.99	1
rs7100433	ECHS1			10	133370298	intron variant	T/C	snv		0.98	3
rs2321168	STARD13 ; STARD13-AS			13	33279354	non coding transcript exon variant	G/A	snv		0.98	4
rs675504				11	102959002	upstream gene variant	A/G	snv		0.98	5
rs10919021	NOS1AP			1	162265600	intron variant	C/T	snv		0.97	1
rs2756231	SORCS1			10	106706654	intron variant	C/T	snv	0.98	0.97	1
rs453789	LOC105371789 ; HDAC5			17	44118647	intron variant	A/C	snv		0.97	1
rs567279	PDE4B			1	66222346	intron variant	G/T	snv		0.97	4
rs11784828	MSRA			8	10333788	intron variant	T/G	snv		0.97	1
rs6561821	STARD13			13	33287048	intron variant	A/T	snv		0.97	1
rs1337068	LOC105371475 ; NOS1AP			1	162163356	intron variant	G/A	snv		0.96	1
rs1572521	COL11A1			1	103097312	intron variant	T/G	snv		0.96	1
rs480392	NTNG1			1	107436774	synonymous variant	A/C	snv	0.99	0.95	3
rs2581473	MEF2A			15	99656452	intron variant	A/G	snv		0.95	1
rs222826		0.851	0.120	2	146120964	regulatory region variant	T/C	snv		0.94	16
rs7190256	ZFHX3	0.851	0.120	16	72963084	intron variant	C/T	snv		0.94	16
rs4233488				1	41315341	intron variant	T/C	snv		0.94	1
rs2072560	ZPR1 ; APOA5			11	116791110	missense variant	T/C	snv	0.89	0.94	5
rs6726798	VIL1			2	218436132	intron variant	A/C	snv		0.94	3
rs6589565	BUD13			11	116769521	intron variant	A/G	snv		0.93	5
rs10790162	BUD13	0.882	0.160	11	116768388	intron variant	A/G;T	snv		0.93	7
rs7350481		0.882	0.040	11	116715567	regulatory region variant	T/C	snv		0.93	8