DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	5
rs1569419	PRDM16			1	3080038	intron variant	T/C	snv		0.73	5
rs56043070	GCSAML			1	247556467	splice donor variant	G/A;T	snv	5.2E-02; 4.1E-06		4
rs12041331	PEAR1	0.776	0.200	1	156899922	intron variant	G/A	snv		0.19	3
rs17396340	KIF1B			1	10226118	intron variant	G/A;C	snv			3
rs41315846	GCSAML			1	247549001	intron variant	T/C	snv	0.44	0.52	3
rs10914144	DNM3			1	171980610	intron variant	T/C	snv		0.78	2
rs11121012	CAMTA1			1	7734229	intron variant	A/G	snv		0.62	2
rs12096438	LDLRAP1			1	25562931	non coding transcript exon variant	C/A;T	snv			2
rs1339847	TRIM58			1	247875992	missense variant	G/A	snv	0.12	0.10	2
rs17853159	TESK2			1	45345193	missense variant	G/A	snv	5.2E-02	5.1E-02	2
rs2038480	DNM3			1	171970501	intron variant	A/G;T	snv			2
rs3557	FCER1G			1	161219103	3 prime UTR variant	T/G	snv		6.5E-02	2
rs78346539	DNM3			1	171966088	intron variant	C/G	snv		8.6E-03	2
rs1001494	ST7L			1	112567997	intron variant	T/C	snv		0.50	1
rs11121529	KIF1B			1	10211630	5 prime UTR variant	C/G	snv		0.20	1
rs1172129	TMCC2			1	205275844	intron variant	T/A	snv		0.30	1
rs1172130	TMCC2			1	205275825	intron variant	G/A	snv		0.30	1
rs12065624	C4BPA			1	207107394	intron variant	A/T	snv		0.10	1
rs146377491	PEAR1			1	156911263	intron variant	CCTC/-	delins		0.10	1
rs157198				1	28877395	upstream gene variant	T/A;C	snv			1
rs1668873	TMCC2			1	205266862	intron variant	G/A	snv		0.27	1
rs2209457	DENND2D			1	111190089	intron variant	G/A;C	snv			1