DisGeNET - a database of gene-disease associations

List of associated variants

Blood Protein Measurement, C2985280

Source: ALL

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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
rs56079856	IDUA			4	1000223	intron variant	G/T	snv		0.14	1
rs181978376				10	100037758	downstream gene variant	T/A;C	snv			1
rs4295981	CPN1			10	100043668	intron variant	C/T	snv		0.37	1
rs11599750	CPN1			10	100045685	intron variant	C/T	snv		0.40	3
rs4919420	CPN1			10	100046495	intron variant	A/G	snv		0.40	1
rs11621315	EVL			14	100060318	intron variant	C/T	snv		0.61	1
rs61751507	CPN1	1.000	0.080	10	100069757	missense variant	C/T	snv	4.2E-02	3.4E-02	3
rs7970682	CLEC1B ; CLEC12B			12	10007469	intron variant	C/A;T	snv			1
rs72840032	CYP2C23P			10	100130207	intron variant	C/T	snv		3.4E-02	1
rs11692867	AFF3			2	100143015	intron variant	G/A	snv		0.34	1
rs6979218				7	100295525	regulatory region variant	C/G	snv		0.76	1
rs113289555	IDUA			4	1003210	non coding transcript exon variant	G/T	snv		0.18	1
rs941923	WARS1			14	100346740	splice region variant	T/C	snv	0.76	0.69	1
rs11771799	PILRB ; STAG3L5P-PVRIG2P-PILRB			7	100358813	missense variant	T/A;C;G	snv	4.3E-03		1
rs151288400	STAG3L5P-PVRIG2P-PILRB ; PILRB			7	100360372	intron variant	AG/-	delins		0.16	1
rs76041173	FANCD2			3	10037011	intron variant	G/A;T	snv		0.21	1
rs12539172	NYAP1			7	100494172	3 prime UTR variant	T/C;G	snv			1
rs4729597	TFR2			7	100624226	intron variant	C/T	snv		0.69	2
rs9801017	TFR2			7	100638579	intron variant	G/A	snv		0.65	3
rs7144375	LINC00523			14	100671047	intron variant	T/C	snv		0.19	1
rs10144381				14	100706960	regulatory region variant	C/A;G;T	snv			1
rs12881760	LOC105370669			14	100709998	regulatory region variant	G/C	snv		0.45	1
rs200997557				19	10079661	intergenic variant	A/-;AA	delins			1
rs3121567	ISG15			1	1008088	non coding transcript exon variant	T/C	snv		0.88	1
rs4727469				7	100911543	upstream gene variant	C/T	snv		0.41	1