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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs587780262	ABRAXAS1 ; MRPS18C	4	83462592	frameshift variant	-/C	delins	9.1E-05	5.6E-05	1
rs1555018818	ANKRD49 ; MRE11	11	94492799	start lost	C/A	snv			1
rs1114167544	APC	5	112839586	frameshift variant	-/A	delins			1
rs1114167545	APC	5	112819210	stop gained	C/G	snv			1
rs1114167546	APC	5	112767222	frameshift variant	-/A	delins			1
rs1114167547	APC	5	112839165	stop gained	C/T	snv			1
rs1114167549	APC	5	112841414	frameshift variant	-/C	delins			1
rs1114167550	APC	5	112775740	splice region variant	A/C	snv			1
rs1114167551	APC	5	112838775	frameshift variant	CAAA/-	delins			1
rs1114167552	APC	5	112840273	frameshift variant	A/-;AA	delins			1
rs1114167554	APC	5	112838939	frameshift variant	G/-	delins			1
rs1114167555	APC	5	112841111	frameshift variant	T/-	delins			1
rs1114167559	APC	5	112838295	stop gained	C/T	snv			1
rs1114167561	APC	5	112754982	frameshift variant	C/-	delins			1
rs1114167562	APC	5	112838584	stop gained	TGGTCA/-	delins			1
rs1114167564	APC	5	112837971	frameshift variant	-/A	delins			1
rs1114167565	APC	5	112792521	frameshift variant	-/A	delins			1
rs1114167566	APC	5	112839648	frameshift variant	G/-	del			1
rs1114167568	APC	5	112839651	stop gained	G/T	snv			1
rs1114167571	APC	5	112839350	frameshift variant	T/-	delins			1
rs1114167573	APC	5	112838019	frameshift variant	A/-	delins			1
rs1114167576	APC	5	112838088	frameshift variant	CAGCTCC/-	delins			1
rs1114167578	APC	5	112839625	stop gained	C/G	snv			1
rs1114167579	APC	5	112819346	splice donor variant	T/C	snv			1
rs1114167582	APC	5	112838773	frameshift variant	-/A	delins			1