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
rs10040989				5	138238036	intergenic variant	G/A	snv		0.12	1
rs10127719	NOS1AP			1	162186380	intron variant	T/A;C	snv			1
rs10432489	SCHLAP1			2	180813076	intron variant	A/C;G	snv			1
rs10482996	LOC105372770 ; BACH1			21	29492492	intron variant	C/T	snv		7.6E-02	1
rs10494366	LOC105371475 ; NOS1AP	0.851	0.200	1	162115895	intron variant	G/T	snv		0.54	7
rs1052536	LIG3	0.776	0.200	17	35004556	3 prime UTR variant	C/T	snv	0.42	0.36	10
rs10775360				17	70329727	intron variant	C/T	snv		0.25	1
rs10800352	NOS1AP			1	162202899	intron variant	A/G	snv		0.27	1
rs10819861	ERCC6L2			9	96105531	intron variant	T/A;C	snv			1
rs10918602	NOS1AP			1	162067910	upstream gene variant	T/C	snv		0.25	1
rs10919070	ATP1B1			1	169129799	intron variant	A/C	snv		0.10	1
rs10919071	ATP1B1			1	169130245	intron variant	A/G	snv		0.10	1
rs1106399				2	200139114	regulatory region variant	A/C	snv		0.15	1
rs11121483	LOC107985733 ; RPL22			1	6203732	intron variant	A/G	snv		0.49	1
rs11129795	SCN5A			3	38547672	downstream gene variant	G/A	snv		0.21	1
rs11153730				6	118346359	intergenic variant	T/C	snv		0.40	4
rs1138486	ATP1B1 ; NME7			1	169132697	3 prime UTR variant	C/G;T	snv		0.12	1
rs114950282				5	3657167	intergenic variant	C/T	snv		1.3E-02	1
rs11643990	LITAF			16	11600206	intron variant	G/A	snv		0.33	1
rs11708996	SCN5A	0.925	0.120	3	38592432	intron variant	G/C	snv		0.11	6
rs11710077	SCN5A			3	38616408	intron variant	A/T	snv		0.17	3
rs11752626	LOC105377971 ; CEP85L			6	118467489	intron variant	G/T	snv		0.35	1
rs11756438	CEP85L	0.925	0.040	6	118672469	intron variant	C/A	snv		0.42	3
rs11779860	LAPTM4B			8	97838102	intron variant	T/C	snv		0.41	1
rs11809180	ATP1B1			1	169130857	intron variant	C/A;T	snv			1