DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

Results per page

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
rs33964027	EXOSC9			4	121808259	intron variant	TTAC/-	delins		0.31	2
rs532591337				19	12459271	intron variant	G/A	snv		4.9E-05	4
rs181743661	INTU			4	127647811	intron variant	C/T	snv		8.5E-03	2
rs12548939	TMEM75 ; PVT1			8	127946525	intron variant	C/T	snv		0.24	2
rs4449583	TERT			5	1284020	intron variant	C/T	snv		0.25	5
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	12
rs56397034	GCDH			19	12889736	upstream gene variant	G/C	snv		0.39	3
rs11085824	GCDH			19	12890733	upstream gene variant	A/G	snv		0.31	4
rs8012	SYCE2 ; GCDH			19	12899706	3 prime UTR variant	A/G	snv	0.61	0.64	2
rs11673346	FARSA			19	12922126	upstream gene variant	T/C	snv		0.70	2
rs10107630	CCDC26			8	129591389	intron variant	C/T	snv		0.54	3
rs2140875				7	129963039	intron variant	A/G	snv		0.80	2
rs17348614	NPHP3-ACAD11 ; NPHP3			3	132692324	intron variant	C/T	snv		4.4E-02	2
rs149037075	ABO			9	133255469	3 prime UTR variant	CTGT/-	delins		0.15	3
rs8176743	ABO	1.000	0.040	9	133256028	missense variant	C/T	snv	0.12	0.11	5
rs8177318	INHCAP ; TF			3	133748533	missense variant	T/A	snv	1.6E-04	2.9E-04	5
rs150854910	TF			3	133757925	missense variant	C/T	snv	8.4E-04	9.4E-04	2
rs35259020				9	134085798	intergenic variant	CT/-	delins		0.18	3
rs7203560	NPRL3	1.000	0.080	16	134391	intron variant	T/G	snv		2.0E-02	6
rs6904897	HBS1L			6	135061842	intron variant	T/G	snv		0.34	2
rs12664956	HBS1L			6	135063050	intron variant	T/C	snv		0.31	2
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	6
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv		0.24	3