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 GENOME	Num. diseases
rs2820315	LMOD1	0.882	0.040	1	201903136	intron variant	C/T	snv	0.23	5
rs3732869	RASA2			3	141576936	intron variant	T/A	snv	0.13	2
rs3751812	FTO	0.882	0.160	16	53784548	intron variant	G/T	snv	0.30	8
rs3800229	FOXO3	1.000	0.040	6	108675760	intron variant	G/T	snv	0.54	4
rs3817334	MTCH2	1.000	0.080	11	47629441	intron variant	C/T	snv	0.36	7
rs40067	FBXL17			5	108103311	intron variant	G/A;T	snv		2
rs4130548	GIPC2 ; DNAJB4	1.000	0.040	1	77998184	intron variant	T/C	snv	0.25	5
rs4234589	ETV5			3	186101093	intron variant	A/G	snv	0.13	2
rs4498364	MMS22L			6	97165897	intron variant	C/T	snv	0.74	2
rs4549702	CNTNAP2			7	148203924	intron variant	C/G	snv	0.40	2
rs4788102	SH2B1	0.851	0.160	16	28862077	intron variant	G/A	snv	0.34	6
rs4858697	RARB			3	25075091	intron variant	A/G	snv	0.53	2
rs4923460	BDNF-AS ; LINC00678			11	27635242	intron variant	G/T	snv	0.20	3
rs55872725	FTO			16	53775211	intron variant	C/T	snv	0.31	6
rs633715		1.000	0.080	1	177883445	intron variant	T/C	snv	0.17	7
rs6804842	RARB			3	25064946	intron variant	A/G	snv	0.53	3
rs6809651	ETV5			3	186096853	intron variant	G/A	snv	0.14	4
rs6864049	LOC105379158 ; LINC02240			5	124994829	intron variant	A/C;G;T	snv		2
rs6870983	TMEM161B-AS1			5	88401716	intron variant	C/T	snv	0.29	3
rs7103411	BDNF ; BDNF-AS	0.752	0.160	11	27678578	intron variant	C/T	snv	0.82	15
rs7113874	TRIM66			11	8666469	intron variant	C/T	snv	0.42	2
rs7124681	CELF1			11	47508395	intron variant	C/A	snv	0.36	2
rs7133378	DNAH10 ; CCDC92			12	123924955	intron variant	G/A	snv	0.38	6
rs7141420	NRXN3	1.000	0.080	14	79433111	intron variant	C/T	snv	0.56	5
rs7175517	MAP2K5			15	67785292	intron variant	A/G	snv	0.30	2