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
rs10838708	PSMC3			11	47419962	intron variant	G/A	snv		0.39	1
rs10838798	PTPRJ			11	48069751	intron variant	T/G	snv		0.56	1
rs10838801	PTPRJ			11	48076728	intron variant	G/A	snv		0.56	1
rs10843164	CCDC91			12	28416781	intron variant	T/C	snv		0.22	1
rs10859563	LOC101928731 ; CRADD			12	93726563	intron variant	C/G	snv		0.40	1
rs10863936	DTL			1	212064456	intron variant	G/A	snv		0.59	1
rs10874746	DIPK1A			1	92858414	intron variant	T/A;C	snv			1
rs10906982	ADAMTSL3			15	83899406	intron variant	T/A	snv		0.63	1
rs10935120	CEP63			3	134514250	intron variant	A/G	snv		0.63	1
rs10946808	H2AC9P	1.000	0.040	6	26233159	non coding transcript exon variant	A/G	snv		0.26	3
rs10948222	SUPT3H			6	45276678	intron variant	T/C	snv		0.40	1
rs10958476	PLAG1			8	56183249	intron variant	T/C	snv		0.16	1
rs11021504	MAML2			11	96262284	intron variant	T/A	snv		0.29	1
rs11024739	SPTY2D1			11	18624296	intron variant	C/A;G	snv			3
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv			2
rs11082671	ZBTB7C			18	48339226	intron variant	A/G	snv		0.56	1
rs11107116	SOCS2	1.000	0.080	12	93584728	downstream gene variant	G/A;T	snv			1
rs11118346				1	219570377	intergenic variant	C/T	snv		0.38	1
rs11144688	PCSK5			9	75927370	intron variant	G/A	snv		9.2E-02	1
rs11170631	ATP5MC2			12	53647408	intron variant	T/C	snv		0.41	1
rs11205277		1.000	0.120	1	149920979	upstream gene variant	A/C;G;T	snv			1
rs11205303	MTMR11	0.882	0.120	1	149934520	missense variant	T/C	snv	0.33	0.29	1
rs11209718	SCMH1			1	41223266	intron variant	C/G;T	snv			1
rs11259933	ADAMTSL3			15	83911404	intron variant	G/A	snv		0.63	1
rs11259936	ADAMTSL3			15	83911830	intron variant	A/C;T	snv			1