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
rs10006237				4	136606920	intergenic variant	C/T	snv		0.50	1
rs10009397				4	28695228	intergenic variant	A/T	snv		0.89	1
rs10009715	LOC105377535			4	171510209	intron variant	T/A;C	snv			1
rs10026457				4	58384912	intergenic variant	T/G	snv		0.71	1
rs10040865	NPM1			5	171411280	downstream gene variant	G/A	snv		0.40	1
rs10055216	RANBP17			5	170981562	intron variant	A/G;T	snv			1
rs10057590	LINC02240			5	124999554	intron variant	A/C	snv		0.62	1
rs10061387				5	124524355	intron variant	A/G	snv		0.47	1
rs10064431	FAM172A			5	93614967	downstream gene variant	T/C	snv		0.41	1
rs10065159	NEURL1B			5	172668864	intron variant	T/C	snv		0.77	1
rs10066711	MEF2C-AS1 ; MEF2C			5	88894787	intron variant	A/T	snv		0.52	1
rs10073038	CAMK4			5	111230823	intron variant	A/T	snv		0.38	1
rs1007966	LOC105376139			9	89599052	non coding transcript exon variant	G/A	snv		0.50	1
rs10088255	UBR5			8	102355371	intron variant	A/T	snv		0.55	1
rs10098073	TSNARE1	1.000	0.040	8	142228143	intron variant	C/A	snv		0.35	2
rs10106406	PTK2			8	140996099	intron variant	C/A;G	snv		0.45	1
rs10107533	CSGALNACT1			8	19521910	intron variant	C/A;T	snv			1
rs10109012				8	15387338	intergenic variant	C/T	snv		0.52	1
rs1011392	TCF4			18	55374672	intron variant	A/G	snv		0.39	1
rs10114066				9	73908824	intergenic variant	T/A	snv		0.76	1
rs10122976	KCNT1			9	135751066	intron variant	C/A;T	snv	0.47; 1.2E-05		1
rs10129426				14	103552118	upstream gene variant	G/A	snv		0.54	2
rs10132779	LOC102724934			14	29249690	intron variant	A/G	snv		0.19	1
rs10136545	FDPSP3 ; GCH1			14	54886145	non coding transcript exon variant	C/T	snv		0.41	1
rs10137343	RBM23			14	22913431	intron variant	A/T	snv		0.56	1