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
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	21
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		17
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv		0.19	7
rs7203560	NPRL3	1.000	0.080	16	134391	intron variant	T/G	snv		2.0E-02	6
rs8176746	ABO	0.882	0.160	9	133255935	missense variant	G/A;T	snv	4.1E-06; 0.12		6
rs8887	PLIN4 ; HDGFL2	1.000	0.080	19	4502189	3 prime UTR variant	T/C;G	snv	0.51; 1.8E-05		6
rs13339636	FAM234A			16	248589	intron variant	A/G	snv		3.8E-02	5
rs2413450	TMPRSS6			22	37074184	intron variant	T/C	snv		0.61	5
rs3218097	CCND3			6	41937537	intron variant	G/A;T	snv			5
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		5
rs13335629	FAM234A			16	260381	intron variant	G/A;C	snv	1.1E-02		4
rs198846	H1-6			6	26107235	downstream gene variant	A/G;T	snv			4
rs837763	LOC107984842			16	88787321	upstream gene variant	C/G;T	snv			4
rs563995	KCNN4			19	43774629	intron variant	G/A	snv	0.24	0.34	3
rs6459467	GMPR			6	16287961	intron variant	G/A;C	snv			3
rs4580814	SLC12A7 ; LOC105374612			5	1113129	upstream gene variant	G/T	snv		0.47	2
rs6684514	TMEM79 ; SMG5	0.925	0.120	1	156285665	missense variant	G/A	snv	0.27	0.24	2