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
rs2079742	BCAS3	0.851	0.240	17	61388336	non coding transcript exon variant	T/C	snv		0.20	9
rs12778662	RBM17			10	6107074	intron variant	C/T	snv		6.3E-02	1
rs140348140	KIAA2026			9	5877295	downstream gene variant	-/A	delins		3.1E-02	2
rs2657879	GLS2 ; SPRYD4	1.000	0.080	12	56471554	missense variant	A/G	snv	0.17	0.15	9
rs1112305				14	55909531	intron variant	C/T	snv		8.4E-02	1
rs17128904	LOC105370511			14	55902347	intron variant	C/A;G	snv			1
rs17128903	LOC105370511			14	55901659	intron variant	C/A;T	snv			1
rs7148653				14	55893567	upstream gene variant	G/A	snv		0.11	1
rs945269				14	55739991	regulatory region variant	G/A	snv		0.35	1
rs11158050				14	55739496	intergenic variant	A/T	snv		0.19	1
rs10130783				14	55714800	intergenic variant	G/A	snv		0.25	1
rs10498477				14	55713381	regulatory region variant	G/A	snv		0.25	1
rs8021103				14	55710645	intergenic variant	G/T	snv		0.24	1
rs2342586				14	55710370	intergenic variant	G/A	snv		0.24	1
rs2342585				14	55710270	intergenic variant	T/A	snv		0.24	1
rs7147303				14	55708916	intergenic variant	C/T	snv		0.23	1
rs6573053				14	55686589	intron variant	C/T	snv		0.39	1
rs942317	KTN1-AS1			14	55557104	intron variant	A/C	snv		0.56	1
rs8011732	KTN1-AS1			14	55539451	intron variant	A/G	snv		0.57	1
rs10134019	KTN1-AS1			14	55530274	intron variant	T/G	snv		0.54	1
rs1009714	KTN1-AS1			14	55512820	intron variant	A/G;T	snv			1
rs17745017	KTN1-AS1			14	55512107	intron variant	G/A	snv		6.7E-02	1
rs1188076	KTN1-AS1			14	55507757	intron variant	A/G	snv		0.35	1
rs1188074	KTN1-AS1			14	55505113	intron variant	C/G;T	snv			1
rs1307315	KTN1-AS1			14	55501077	intron variant	C/G;T	snv			1