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
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs4146429				10	102641875	upstream gene variant	T/C	snv		0.10	2
rs40067	FBXL17			5	108103311	intron variant	G/A;T	snv			2
rs3800229	FOXO3	1.000	0.040	6	108675760	intron variant	G/T	snv		0.54	4
rs7550711	GPR61			1	109540264	intron variant	C/T	snv		2.6E-02	3
rs17024393	GNAT2			1	109612066	intron variant	T/C	snv		4.6E-02	4
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1928295				9	117616205	intergenic variant	T/C	snv		0.45	3
rs984222	TBX15			1	118961220	intron variant	C/A;G	snv			3
rs10923724				1	119004219	upstream gene variant	C/T	snv		0.53	3
rs7133378	DNAH10 ; CCDC92			12	123924955	intron variant	G/A	snv		0.38	6
rs6864049	LOC105379158 ; LINC02240			5	124994829	intron variant	A/C;G;T	snv			2
rs1308362	MRAS			3	138385085	intron variant	A/G;T	snv			2
rs1720825	MRAS			3	138389241	intron variant	A/G;T	snv			2
rs3732869	RASA2			3	141576936	intron variant	T/A	snv		0.13	2
rs2035935	RASA2			3	141587171	intron variant	A/G;T	snv			2
rs4549702	CNTNAP2			7	148203924	intron variant	C/G	snv		0.40	2
rs13191362	PRKN			6	162612318	intron variant	A/G	snv		8.7E-02	3
rs6556301				5	177100576	downstream gene variant	G/T	snv		0.33	5
rs633715		1.000	0.080	1	177883445	intron variant	T/C	snv		0.17	7
rs543874		1.000	0.080	1	177920345	upstream gene variant	A/G	snv		0.21	11
rs6809651	ETV5			3	186096853	intron variant	G/A	snv		0.14	4
rs4234589	ETV5			3	186101093	intron variant	A/G	snv		0.13	2
rs7647305	DGKG	1.000	0.080	3	186116501	intron variant	T/C	snv		0.74	8
rs757318	CRTC1			19	18709498	intron variant	C/A;G;T	snv			3