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
rs11577931				1	109278262	downstream gene variant	A/G	snv		5.5E-02	3
rs583104				1	109278685	downstream gene variant	G/T	snv		0.63	6
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv		0.63	8
rs1277930	PSRC1			1	109279521	downstream gene variant	G/A	snv		0.63	4
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			9
rs657420	PSRC1			1	109283514	upstream gene variant	C/T	snv		0.43	3
rs655246				1	109289661	downstream gene variant	A/C;G	snv			3
rs17645031	MYBPHL			1	109292316	downstream gene variant	C/T	snv		7.9E-02	3
rs41306199	MYBPHL			1	109292541	3 prime UTR variant	C/T	snv		7.8E-02	3
rs12127701	MYBPHL			1	109295642	intron variant	A/G	snv		6.2E-02	3
rs629001	MYBPHL			1	109296296	missense variant	C/G;T	snv	0.93		3
rs413582	MYBPHL			1	109308504	upstream gene variant	C/T	snv		0.37	3
rs4970843	SORT1			1	109344569	intron variant	T/C	snv		0.37	3
rs17646665	SORT1	1.000	0.080	1	109369429	intron variant	A/G	snv		5.8E-02	3
rs17646731	SORT1			1	109376903	intron variant	G/A	snv		4.6E-02	3
rs7330914	COL4A1			13	110274714	intron variant	C/A	snv		3.0E-02	3
rs1529729	SMARCA4			19	11052886	intron variant	C/T	snv		0.58	3
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	7
rs17248720	LDLR			19	11087511	upstream gene variant	C/T	snv		0.16	4
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	10
rs17242787	LDLR			19	11091784	intron variant	T/A	snv		6.4E-03	3
rs8102912	LDLR			19	11095299	intron variant	G/A;C	snv			3
rs8110695	LDLR			19	11095854	intron variant	T/A;C	snv			3
rs6511721	LDLR			19	11095899	intron variant	G/A	snv		0.63	3
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		6