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
rs7890572	IL1RAPL1			X	29622701	intron variant	A/G	snv		9.3E-02	6
rs12394306	SYN1			X	47576648	splice region variant	A/C;T	snv	4.3E-03		4
rs5942937				X	110473179	intron variant	T/G	snv		0.47	4
rs5985471				X	110460733	downstream gene variant	C/T	snv		0.43	4
rs17237820	AGTR2			X	116174483	3 prime UTR variant	A/T	snv		5.7E-03	3
rs12686890	AFF2			X	148747935	intron variant	C/T	snv		1.7E-03	2
rs2238894	ARHGAP6			X	11146710	intron variant	G/A	snv		1.6E-03	2
rs4844229	DLG3			X	70487642	intron variant	A/G;T	snv			2
rs5953073				X	47634947	upstream gene variant	A/G	snv		0.12	2
rs138331350	FANCB			X	14841981	intron variant	G/A	snv		3.7E-02	1
rs8138057	PDXP			22	37665537	intron variant	G/A	snv	3.0E-03	1.3E-02	6
rs9622186				22	35377961	upstream gene variant	A/G	snv		3.7E-03	6
rs2294915	PNPLA3	1.000	0.040	22	43945024	intron variant	C/G;T	snv			5
rs4253642	LOC105373074 ; PPARA			22	46167520	intron variant	A/G	snv		7.1E-03	5
rs1811069	YDJC	1.000	0.040	22	21627765	upstream gene variant	T/A;G	snv			4
rs4820323	MAFF ; PLA2G6			22	38203760	non coding transcript exon variant	C/A;G;T	snv			4
rs181362	UBE2L3			22	21577779	intron variant	C/T	snv		0.31	3
rs4821116	UBE2L3	0.925	0.120	22	21619030	intron variant	C/A;T	snv		0.18	3
rs5754166	UBE2L3	0.925	0.160	22	21576488	intron variant	C/T	snv		0.18	3
rs6000582	IL2RB			22	37151454	intron variant	G/T	snv		3.8E-02	3
rs10427943	CABIN1			22	24131331	intron variant	G/T	snv		1.2E-02	2
rs11555832	HMOX1			22	35393876	3 prime UTR variant	A/G;T	snv			2
rs12165603	SYN3 ; TIMP3			22	32854769	intron variant	G/A	snv		3.7E-02	2
rs133027	PLA2G6			22	38179492	intron variant	T/-	delins		0.46	2
rs16991252	SYN3 ; TIMP3			22	32817937	intron variant	C/A;T	snv		2.3E-02	2