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
rs12361586	SESN3			11	95169007	3 prime UTR variant	A/G	snv		0.12	1
rs896854	TP53INP1 ; NDUFAF6	1.000	0.080	8	94948283	intron variant	T/C	snv		0.45	2
rs11253530	LOC107984285			10	947789	intergenic variant	T/C	snv		0.13	1
rs3858607				12	94143027	downstream gene variant	G/C	snv		0.53	1
rs11555542	ASB2			14	93951185	missense variant	T/C	snv	3.3E-02	3.7E-02	2
rs4761524	CRADD			12	93750399	intron variant	A/G	snv		0.56	1
rs35797862	CCDC18-AS1 ; CCDC18			1	93272958	intron variant	-/GA	delins			1
rs797680	CCDC18			1	93251417	intron variant	G/A;T	snv			2
rs2281525	MTF2			1	93129749	intron variant	G/C	snv		0.61	1
rs4919594	CYP26C1			10	93063839	3 prime UTR variant	G/C	snv		0.32	1
rs945631	DIPK1A			1	92960610	intron variant	G/A	snv		4.1E-02	2
rs2072735	SPSB1			1	9295413	intron variant	A/C	snv		0.76	2
rs117977586				7	92952842	intergenic variant	A/G	snv		1.7E-02	1
rs916379				1	9281069	intergenic variant	C/T	snv		0.53	1
rs117582141				10	92804854	intergenic variant	T/A;C	snv			3
rs445	CDK6			7	92779056	intron variant	C/T	snv		0.14	9
rs8	CDK6			7	92779015	intron variant	C/T	snv		0.14	2
rs11319879	HHEX			10	92693719	intron variant	A/-	delins		0.53	2
rs34350610	LOC101928272			10	9268958	intergenic variant	G/C	snv		0.14	1
rs7918084	EIF2S2P3	1.000	0.080	10	92669710	non coding transcript exon variant	C/T	snv		0.60	3
rs117068593	RIN3			14	92651884	missense variant	C/T	snv	0.13	0.11	4
rs72699866	RIN3			14	92648442	intron variant	G/A	snv		0.14	4
rs11624512	RIN3			14	92644775	non coding transcript exon variant	C/T	snv		0.15	5
rs72699818	RIN3			14	92611266	intron variant	T/C	snv		0.12	4
rs42033	CDK6	0.882	0.080	7	92608219	3 prime UTR variant	A/T	snv		0.16	5