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
rs157198				1	28877395	upstream gene variant	T/A;C	snv			1
rs2180748	DNM3			1	171977878	intron variant	T/A;G	snv			1
rs2209457	DENND2D			1	111190089	intron variant	G/A;C	snv			1
rs2278796	NFASC			1	204982081	intron variant	C/T	snv		0.22	1
rs236907				1	171675446	upstream gene variant	G/A	snv		0.15	1
rs2494663	NUP210L			1	154119580	intron variant	C/A;G;T	snv			1
rs2789422	TAGLN2			1	159922298	intron variant	G/A	snv		0.32	1
rs35986908	TENT5C			1	117608080	intron variant	AA/-;A;AAA;AAAA;AAAAA;AAAAAAA	delins			1
rs6681480	DNM3			1	171925452	intron variant	A/G;T	snv			1
rs6695640	PADI6			1	17393666	intron variant	T/A;G	snv			1
rs75446219	LDLRAP1			1	25551001	intron variant	C/T	snv		2.0E-02	1
rs77795865	PEAR1			1	156908681	missense variant	C/T	snv	2.0E-02	2.3E-02	1
rs896322	LOC101929459 ; TMCC2			1	205240617	intron variant	A/G	snv		0.92	1
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs13412535	SERPINE2			2	224010157	intron variant	G/A	snv		0.17	5
rs78909033	RNPEPL1			2	240571486	intron variant	G/A	snv		9.2E-02	5
rs74847330	ARHGAP15			2	143074030	intergenic variant	A/G	snv		8.8E-02	4
rs17572109	ARPC2			2	218229211	non coding transcript exon variant	G/A;T	snv			3
rs649729	EHD3	1.000	0.040	2	31241519	intron variant	T/A;C	snv			3
rs655029	EHD3			2	31254972	intron variant	G/A	snv		0.78	3
rs7585866				2	191831529	downstream gene variant	A/G	snv		0.24	2
rs11123694	GCC2			2	108448107	upstream gene variant	C/T	snv		0.39	1
rs11893307				2	190863318	regulatory region variant	G/A	snv		0.21	1
rs2580764	EML6			2	54969820	intron variant	G/A	snv		0.30	1
rs3771529	MXD1			2	69937708	intron variant	G/A	snv		0.20	1