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 GENOME	Num. diseases
rs79881201	WDR36			5	111092097	5 prime UTR variant	C/T	snv	0.26	2
rs797680	CCDC18			1	93251417	intron variant	G/A;T	snv		2
rs796650675	SP140			2	230312486	intron variant	TT/-;T;TTT	delins		2
rs7936323		0.882	0.160	11	76582714	intergenic variant	G/A	snv	0.44	6
rs791357	LOC107986482			5	173778222	downstream gene variant	T/A;C	snv		4
rs78744187				19	33263642	intergenic variant	C/T	snv	6.8E-02	5
rs78487399	THADA			2	43582208	intron variant	G/C	snv	6.2E-02	5
rs7846314	CHD7			8	60738272	intron variant	A/T	snv	0.27	5
rs7834745	TNFRSF11B			8	118927620	intron variant	A/G	snv	0.18	2
rs7804306	GLCCI1			7	7978549	intron variant	G/A	snv	0.11	4
rs77972791	ELMO1			7	37364044	intron variant	A/G	snv	8.2E-02	2
rs77697917				17	43763481	upstream gene variant	C/G;T	snv		4
rs776509440	KANSL1			17	46096136	intron variant	-/CTT;CTTT;CTTTT;CTTTTT;CTTTTTT;CTTTTTTT;CTTTTTTTT;CTTTTTTTTTT;CTTTTTTTTTTTTTTT	delins		2
rs77204473	SIK3			11	116934348	intron variant	T/C;G	snv		2
rs7705526	TERT	0.776	0.240	5	1285859	intron variant	C/A;T	snv		15
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv	0.50	28
rs76792961	FAM234A			16	243594	intron variant	C/T	snv	7.3E-03	13
rs7613595	PLCL2			3	16867007	intron variant	C/A	snv	0.79	2
rs76025697	MAML1			5	179757487	intron variant	G/A	snv	0.35	4
rs75802552	IL21-AS1			4	122678167	intron variant	A/-	delins	0.35	2
rs7569084	SPRED2			2	65429835	intron variant	C/T	snv	0.62	2
rs75504410	KLF3-AS1			4	38656198	intron variant	G/A	snv	6.6E-02	2
rs7550207	CADM3-AS1 ; ACKR1			1	159205095	intron variant	T/C	snv	0.19	5
rs749780	RAB37 ; CD300LF			17	74703245	intron variant	C/A	snv	0.54	4
rs74480102	KDM6B			17	7839283	upstream gene variant	G/A	snv	2.5E-02	3