DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	8
rs17145750	MLXIPL	0.925	0.120	7	73612048	intron variant	C/A;T	snv			7
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	6
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv		0.30	4
rs10914144	DNM3			1	171980610	intron variant	T/C	snv		0.78	3
rs13300663	RCL1			9	4814948	intron variant	G/A;C	snv			3
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv		0.19	3
rs10761731	JMJD1C			10	63267850	intron variant	A/T	snv		0.38	2
rs10974808	RCL1			9	4840380	intron variant	A/G	snv		9.0E-02	2
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv			2
rs11602954	BET1L			11	202856	intron variant	G/A	snv		0.17	2
rs1354034	ARHGEF3			3	56815721	intron variant	T/C	snv		0.49	2
rs1668871	TMCC2			1	205268009	intron variant	T/C;G	snv			2
rs210134	BAK1 ; GGNBP1	1.000	0.120	6	33572432	intron variant	A/G	snv		0.72	2
rs4379723	JMJD1C			10	63203689	intron variant	T/C	snv		0.43	2
rs4766566	CUX2	0.851	0.200	12	111269073	intron variant	C/T	snv		0.42	2
rs513349	GGNBP1 ; BAK1	1.000	0.120	6	33573942	intron variant	A/G	snv	0.51	0.51	2
rs6993770	ZFPM2 ; ZFPM2-AS1	0.925	0.080	8	105569300	intron variant	A/T	snv		0.31	2
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	2
rs7961894	WDR66			12	121927677	intron variant	C/T	snv		7.3E-02	2
rs944002	EXOC3L4			14	103106478	intron variant	A/G	snv		0.25	2
rs10058074	MIR3936HG			5	132350453	intron variant	G/A	snv		0.31	1
rs1034566	ARVCF			22	19996754	intron variant	C/G;T	snv			1
rs10876550	COPZ1			12	54318524	intron variant	G/A	snv		0.68	1
rs11071720	TPM1-AS ; TPM1			15	63049797	intron variant	T/C;G	snv			1