DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: CSMD1 ×

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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 GENOME	Num. diseases
rs10503253	CSMD1	0.851	0.040	8	4323322	intron variant	C/A	snv	0.18	5
rs6558872	CSMD1	0.882	0.040	8	4380617	intron variant	G/A;C	snv		3
rs142700918	CSMD1	0.925	0.080	8	3448320	intron variant	G/A	snv	5.8E-03	2
rs11987640	CSMD1	1.000		8	4584258	intron variant	G/C	snv	0.12	2
rs11136775	CSMD1	0.925	0.040	8	4791194	intron variant	G/C	snv	0.12	2
rs13260434	CSMD1	0.925	0.040	8	3368702	intron variant	T/A	snv	0.24	2
rs11787412	CSMD1	0.925	0.040	8	3276717	intron variant	C/A;T	snv		2
rs2046197	CSMD1	1.000	0.080	8	3762230	intron variant	G/A;C;T	snv		1
rs73660619	CSMD1	1.000	0.080	8	3230651	intron variant	T/C	snv	6.8E-02	1
rs4633074	CSMD1			8	4924352	intron variant	G/A;C;T	snv		1
rs2627395	CSMD1			8	3921330	intron variant	C/T	snv	0.58	1
rs11998250	CSMD1	1.000	0.040	8	3162070	intron variant	A/C	snv	0.22	1
rs2406305	CSMD1	1.000	0.040	8	3160861	intron variant	C/T	snv	0.85	1
rs1460403	CSMD1	1.000	0.040	8	3162709	intron variant	T/A	snv	5.0E-02	1
rs17079516	CSMD1	1.000	0.040	8	3166618	intron variant	T/A;C	snv		1
rs17079504	CSMD1	1.000	0.040	8	3161800	intron variant	G/A	snv	0.30	1
rs17079498	CSMD1	1.000	0.040	8	3160822	intron variant	T/C	snv	7.1E-02	1
rs17079506	CSMD1	1.000	0.040	8	3162901	intron variant	T/A	snv	6.8E-02	1
rs13250365	CSMD1	1.000	0.040	8	3155942	intron variant	G/C;T	snv		1
rs73505850	CSMD1	1.000	0.040	8	4897316	intron variant	G/A	snv	2.4E-02	1
rs9987128	CSMD1	1.000	0.040	8	3122601	intron variant	A/G	snv	0.17	1
rs13261217	CSMD1	1.000	0.040	8	4325535	non coding transcript exon variant	A/G	snv	0.26	1
rs139425113	CSMD1	1.000	0.040	8	4323090	intron variant	A/-;AA;AAA	delins		1
rs10503256	CSMD1	1.000	0.040	8	4356657	intron variant	A/G	snv	0.57	1
rs12541020	CSMD1	1.000	0.040	8	4960070	intron variant	T/A;C	snv		1