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
rs2452170				19	48710247	downstream gene variant	G/A;C	snv			3
rs34499590	LEPR			1	65616108	missense variant	C/G;T	snv	2.5E-03		3
rs35866622	MAMSTR			19	48714803	splice region variant	C/T	snv	0.34	0.32	3
rs4360309				8	125511281	intron variant	C/G;T	snv			3
rs4587594	DOCK7			1	62668259	intron variant	G/A	snv		0.36	3
rs5020	SLC4A1			17	44255219	splice region variant	A/G	snv	3.2E-03	1.3E-02	3
rs541041				2	21072103	intergenic variant	G/A	snv		0.71	3
rs5743316	TLR3			4	186082537	missense variant	A/T	snv	4.0E-05	3.5E-05	3
rs6461564	SP4			7	21456809	intron variant	T/C	snv		0.38	3
rs7100433	ECHS1			10	133370298	intron variant	T/C	snv		0.98	3
rs73001065	MAU2			19	19349732	intron variant	G/C	snv		4.8E-02	3
rs74664507		1.000	0.040	9	16913838	upstream gene variant	T/A	snv			3
rs7544735	RNU6ATAC35P	1.000	0.040	1	220825571	intron variant	G/A	snv		0.22	3
rs7827408	VPS13B			8	99527615	intron variant	C/T	snv		2.3E-02	3
rs7951347	CSRP3 ; CSRP3-AS1			11	19198031	intron variant	T/A;C	snv			3
rs8102280	MAU2			19	19344941	non coding transcript exon variant	G/A	snv	2.8E-02	1.5E-02	3
rs876528	ADRA1B			5	159964639	intron variant	G/A	snv		2.3E-02	3
rs9266229	HLA-B			6	31357546	non coding transcript exon variant	C/G;T	snv			3
rs9297994				8	58479765	intergenic variant	G/A	snv		0.75	3
rs934198				2	21055901	intergenic variant	G/T	snv		0.26	3
rs9658150	PPARD			6	35420123	splice region variant	G/A	snv	3.6E-05	5.6E-05	3
rs9658465	NOS1			12	117247093	intron variant	T/G	snv		2.3E-02	3
rs9658736	FAS			10	89004160	intron variant	T/C	snv		9.4E-03	3
rs9838771	TGFBR2 ; LOC105377016			3	30657290	intron variant	G/A	snv		2.5E-02	3
rs9912177	ITGB3			17	47285851	intron variant	A/T	snv		6.4E-03	3