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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs1417938	CRP	0.776	0.320	1	159714396	intron variant	T/A;C	snv	0.28		10
rs6854845		0.827	0.080	4	74821455	intergenic variant	G/T	snv		0.13	6
rs17026425	IQCM	0.882	0.080	4	149751362	intron variant	G/A	snv		4.9E-02	4
rs412396				20	43657322	downstream gene variant	C/G	snv		0.77	2
rs10889675	IL23R	1.000	0.080	1	67256533	intron variant	C/A	snv		0.11	2
rs7542081	IL23R	1.000	0.080	1	67237570	intron variant	C/A	snv		0.56	2
rs587779082	MSH2			2	47445584	inframe deletion	CTC/-	delins			2
rs4725431	PRKAG2			7	151776093	intron variant	T/C	snv		0.19	2
rs6964824	PRKAG2			7	151654146	intron variant	T/C	snv		0.31	2
rs1570271				10	113528742	intergenic variant	A/C;G	snv			1
rs2296189	FLT1			13	28319505	synonymous variant	A/C;G	snv	8.0E-06; 0.21		1
rs600640	FLT1			13	28489832	intron variant	G/A	snv		0.61	1
rs7983774	FLT1			13	28390188	intron variant	G/A;T	snv			1
rs17057166	LINC01847			5	159821007	intron variant	C/T	snv		8.4E-02	1
rs4868304	LINC01942			5	173704454	intron variant	C/T	snv		0.15	1
rs3218499	XRCC2			7	152655054	intron variant	C/G	snv		0.17	1