DisGeNET - a database of gene-disease associations

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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
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	22
rs760077	MTX1 ; THBS3	0.925	0.120	1	155208991	missense variant	T/A	snv		0.36	8
rs366684	PROX1			1	214013919	intron variant	G/A;C	snv			3
rs533281866	EGLN1			1	231422308	intron variant	G/A;C	snv			3
rs112682076	KIF1B			1	10297748	intron variant	G/C	snv		5.8E-03	2
rs7541039	PROX1			1	214003436	intron variant	C/T	snv		0.27	2
rs145611121	PRDM16			1	3402268	intron variant	-/C;CC	delins			1
rs17400517	FCGR2A			1	161515469	intron variant	G/T	snv		8.5E-02	1
rs576195416	EGLN1			1	231374522	intron variant	TT/-;T;TTT;TTTT;TTTTTTTTTTTT	delins			1
rs770551112	ZYG11A			1	52849688	intron variant	-/CT;CTT	ins			1
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs562338		0.807	0.160	2	21065449	intergenic variant	A/G	snv		0.69	21
rs1728918		0.827	0.160	2	27412596	upstream gene variant	A/G;T	snv			19
rs478442		0.851	0.120	2	21176344	intergenic variant	G/C;T	snv			18
rs222826		0.851	0.120	2	146120964	regulatory region variant	T/C	snv		0.94	16
rs6759518	SLC30A3	0.851	0.120	2	27263727	intron variant	G/C	snv		5.5E-02	16
rs10495928	PRKCE			2	46126027	intron variant	A/G	snv		0.36	5
rs13008603	PRKCE			2	46128709	intron variant	C/A	snv		0.10	5
rs4953318	PRKCE			2	46127912	intron variant	A/C	snv		0.43	5
rs62160676	MIR4435-2HG			2	111410354	intron variant	T/C;G	snv			5
rs10168349	PRKCE			2	46133768	intron variant	G/C	snv		0.36	4
rs114948639	PRKCE			2	46066687	intron variant	C/T	snv		7.2E-03	3
rs11689538	TFCP2L1			2	121238062	intron variant	G/C	snv		0.11	3
rs17034641	PRKCE			2	46145505	intron variant	G/A	snv		0.16	3