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
rs1563183469	AUTS2	0.925	0.120	7	70766245	missense variant	A/C	snv			3
rs1558519119	BCL11A	0.925	0.120	2	60546061	frameshift variant	C/-	del			3
rs750610248	BCL11B	0.882	0.200	14	99175513	missense variant	A/C;G	snv	4.1E-06		3
rs754914260	DCC	0.925	0.120	18	52923832	stop gained	C/A;T	snv	4.0E-06		3
rs1057523157	SETD2	0.925	0.120	3	47088172	missense variant	G/A	snv			3
rs199590018	SYP	0.925	0.120	X	49193294	missense variant	G/A	snv	1.4E-04	7.5E-05	3
rs587780072	TP53	0.882	0.240	17	7674927	missense variant	G/A;C	snv	2.8E-05		3
rs1057517858	TUBA1A	0.925	0.240	12	49185714	missense variant	C/A;T	snv			3
rs1565627707	TUBA1A	0.925	0.240	12	49186657	missense variant	C/A	snv			3
rs387907252	VAX1	0.882	0.160	10	117134559	missense variant	G/T	snv			3
rs1057519053	DCC	1.000	0.120	18	52925310	frameshift variant	A/-	del			2
rs1057519054	DCC	1.000	0.120	18	53386061	missense variant	T/G	snv			2
rs1057519055	DCC	1.000	0.120	18	53386097	missense variant	G/A	snv			2
rs1057519056	DCC	1.000	0.120	18	53207746	missense variant	G/A;C	snv			2
rs1057519057	DCC	1.000	0.120	18	53391876	missense variant	G/A	snv			2
rs199651452	DCC	1.000	0.120	18	53339775	missense variant	A/T	snv	4.0E-06		2
rs775565634	DCC	1.000	0.120	18	53339808	missense variant	G/A	snv	1.5E-04	7.7E-05	2
rs11893842	OBSL1 ; INHA	0.925	0.160	2	219572251	intron variant	A/G	snv		0.45	2
rs1569459580	PAK3	1.000	0.120	X	111196503	missense variant	G/A	snv			2
rs782785654	TMLHE-AS1 ; TMLHE	1.000	0.120	X	155524537	missense variant	G/A	snv	5.5E-06	1.9E-05	2