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
rs10058074	MIR3936HG			5	132350453	intron variant	G/A	snv		0.31	1
rs1034566	ARVCF			22	19996754	intron variant	C/G;T	snv			1
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	8
rs1050316	MEF2D			1	156464911	3 prime UTR variant	G/T	snv		0.54	1
rs10512472	SLFN14			17	35557785	missense variant	T/C	snv	0.21	0.19	1
rs10761731	JMJD1C			10	63267850	intron variant	A/T	snv		0.38	2
rs10876550	COPZ1			12	54318524	intron variant	G/A	snv		0.68	1
rs10914144	DNM3			1	171980610	intron variant	T/C	snv		0.78	3
rs10974808	RCL1			9	4840380	intron variant	A/G	snv		9.0E-02	2
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv		0.30	4
rs11071720	TPM1-AS ; TPM1			15	63049797	intron variant	T/C;G	snv			1
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv			2
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		3
rs11602954	BET1L			11	202856	intron variant	G/A	snv		0.17	2
rs11628318				14	102573750	regulatory region variant	T/A;C	snv			1
rs11757577	HBS1L			6	135070327	intron variant	G/A;T	snv			1
rs11789898	BRD3			9	134060541	intron variant	G/T	snv		0.14	1
rs1203981	LUC7L			16	215160	intron variant	C/T	snv		0.61	1
rs12526480	CARMIL1			6	25533306	intron variant	T/G	snv		0.32	1
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	25
rs13042885				20	1944061	upstream gene variant	C/A;T	snv			1
rs13236689	CD36			7	80606698	intron variant	T/G	snv		0.44	1
rs13300663	RCL1			9	4814948	intron variant	G/A;C	snv			3
rs1331308	HBS1L			6	135083984	intron variant	A/C	snv		0.61	1
rs1354034	ARHGEF3			3	56815721	intron variant	T/C	snv		0.49	2