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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1983127	HKDC1 ; LOC101928994	10	69230145	intron variant	G/T	snv		0.38	2
rs2268575	GCK ; LOC105375258	7	44149675	intron variant	T/C	snv		0.18	2
rs2280231	KBTBD4 ; NDUFS3	11	47578886	5 prime UTR variant	C/T	snv	0.24	0.20	2
rs2300615	GLP1R	6	39071727	intron variant	T/G	snv		0.17	2
rs2302593	SNRPD2 ; QPCTL	19	45693376	intron variant	C/A;G	snv	1.0E-04; 0.48		2
rs2390732	CERS6	2	168749457	intron variant	G/A	snv		0.65	2
rs2605627	SMCO4	11	93526349	intron variant	A/G	snv		0.79	2
rs2971671	LOC105375257 ; GCK	7	44171738	intron variant	T/C	snv		0.22	2
rs2979422	POLD2	7	44122756	intron variant	T/C	snv		0.20	2
rs3138708	SLC2A2	3	171009914	intron variant	T/G	snv		3.1E-02	2
rs340878	PROX1-AS1 ; PROX1	1	213983706	intron variant	G/C	snv		0.63	2
rs35859536	LOC105375716	8	117179236	downstream gene variant	C/T	snv		0.25	2
rs3778321	RREB1	6	7250037	3 prime UTR variant	G/A	snv		0.11	2
rs3783347	WARS1	14	100372924	intron variant	G/T	snv		0.16	2
rs3816725	MADD	11	47284118	intron variant	T/C;G	snv			2
rs3829109	CARD9 ; DNLZ	9	136362314	intron variant	G/A	snv		0.25	2
rs4237150	GLIS3	9	4290085	intron variant	G/A;C;T	snv			2
rs4775471		15	62132450	intergenic variant	C/T	snv		0.18	2
rs4869272	MIR583HG ; LOC101929710	5	96203744	intron variant	C/T	snv		0.72	2
rs5394	SLC2A2	3	171027104	intron variant	G/A	snv		0.15	2
rs6072275	TOP1 ; PLCG1-AS1	20	41115265	intron variant	G/A	snv		0.13	2
rs6113722	LINC00261	20	22576461	intron variant	G/A;T	snv			2
rs6943153	GRB10	7	50723882	intron variant	T/C	snv		0.56	2
rs6975024	GCK	7	44192287	intron variant	T/C	snv		0.14	2
rs7101470	C11orf49	11	47032897	intron variant	A/G	snv		7.4E-02	2