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
rs7125606	AMPD3			11	10488517	intron variant	T/C;G	snv		1
rs1883025	ABCA1	0.807	0.120	9	104902020	intron variant	C/T	snv	0.28	13
rs6807064	ATP2B2			3	10494087	intron variant	C/T	snv	0.35	2
rs11053831	EIF2S3B ; LOC105369657			12	10519778	intron variant	A/T	snv		1
rs10884207	LOC107984266			10	105663501	intergenic variant	T/A;C	snv		1
rs7053320	MID1			X	10573070	intron variant	C/T	snv	0.12	1
rs4072698	LOC105377923			6	105882628	intron variant	C/T	snv	0.11	1
rs6902443	LOC105377923			6	105885729	intron variant	A/G;T	snv		1
rs61372898	OXR1			8	106337099	regulatory region variant	G/A	snv	0.28	1
rs12472491				2	106573081	regulatory region variant	A/C	snv	0.17	1
rs2017417	TEKT5			16	10677050	intron variant	A/G	snv	0.45	1
rs61315837	PDSS2			6	107221343	intron variant	A/G	snv	3.3E-02	1
rs11053915	YBX3 ; LOC112268104			12	10724206	upstream gene variant	G/C	snv	0.34	1
rs4772910	FAM155A			13	107684525	intron variant	C/T	snv	0.86	1
rs9520550	FAM155A			13	107684706	intron variant	A/G;T	snv		1
rs7139631	FAM155A			13	107691801	intron variant	A/G	snv	0.12	1
rs3915937	FAM155A			13	107722352	intron variant	C/T	snv	0.74	1
rs9301253	FAM155A			13	107725527	intron variant	T/C	snv	0.71	1
rs1557093	FAM155A			13	107725887	intron variant	C/T	snv	0.87	1
rs1539134	FAM155A			13	107726915	intron variant	G/C;T	snv		1
rs3905064	FAM155A			13	107730794	intron variant	A/G	snv	0.74	1
rs2391566	FAM155A			13	107732899	intron variant	G/A	snv	0.84	1
rs7330529	FAM155A			13	107732933	intron variant	A/G	snv	0.79	1
rs9555405	FAM155A			13	107733026	intron variant	A/C	snv	0.74	1
rs7319801	FAM155A			13	107734296	intron variant	G/A	snv	0.75	1