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
rs139707092	SPC25 ; NOSTRIN	2	168850753	intron variant	TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT	delins		5
rs145013566	PNKD	2	218297998	intron variant	-/C	ins		5
rs147694761	NPC1	18	23571654	intron variant	AAAA/-;A;AA;AAA;AAAAA;AAAAAA	delins		5
rs16978075	LINC01478 ; LINC01601	18	44533186	intron variant	T/C	snv	8.5E-02	5
rs192022	C11orf65	11	108378047	intron variant	C/G;T	snv		5
rs1982094	CCDC26	8	129612570	intron variant	C/T	snv	4.8E-02	5
rs2158799	JAZF1-AS1	7	28237488	intron variant	C/G;T	snv	0.70	5
rs238914	ZBTB16	11	114113387	intron variant	C/A	snv	0.45	5
rs2846630	ZBTB16	11	114086475	intron variant	G/A	snv	0.35	5
rs2998286	LINC02652	10	28491444	intron variant	T/C	snv	0.73	5
rs34061361	FLT3	13	28044450	intron variant	AAA/-;A;AA;AAAA	delins		5
rs3917914	CSF3R	1	36482287	intron variant	G/A;T	snv		5
rs3917932	CSF3R	1	36478315	intron variant	C/G	snv	0.59	5
rs397731840	CCDC26	8	129599504	intron variant	TT/-;T;TTT;TTTT;TTTTT	delins		5
rs4449583	TERT	5	1284020	intron variant	C/T	snv	0.25	5
rs555346412	HECTD4	12	112191863	intron variant	G/C	snv	8.2E-04	5
rs56388170	CREB5	7	28684757	intron variant	G/T	snv	0.37	5
rs60606273		15	64362768	intron variant	A/T	snv	0.84	5
rs6500550	TRAP1	16	3696240	intron variant	C/G;T	snv		5
rs6917586		6	21381296	intron variant	G/A	snv	0.35	5
rs7550207	CADM3-AS1 ; ACKR1	1	159205095	intron variant	T/C	snv	0.19	5
rs7846314	CHD7	8	60738272	intron variant	A/T	snv	0.27	5
rs78487399	THADA	2	43582208	intron variant	G/C	snv	6.2E-02	5
rs9436747	LEPR	1	65445924	intron variant	T/C	snv	0.56	5
rs9819371	RASA2	3	141487958	intron variant	C/T	snv	4.7E-02	5