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
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs762516	G6PD			X	154536448	intron variant	C/T	snv		4.7E-02	4
rs5987027	MPP1			X	154785832	intron variant	C/T	snv		7.8E-02	2
rs150340932				X	55552777	intergenic variant	T/C	snv			1
rs6525433	TEX11			X	70853309	missense variant	T/C	snv	0.12	0.14	1
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		14
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			11
rs2283847	MN1			22	27785411	intron variant	C/A;G;T	snv			7
rs5754217	UBE2L3	0.925	0.120	22	21585386	intron variant	G/T	snv		0.31	7
rs130624				22	37042611	regulatory region variant	G/T	snv		0.47	6
rs228129	LOC112268295			22	37032558	upstream gene variant	A/G	snv		0.48	6
rs2413450	TMPRSS6			22	37074184	intron variant	T/C	snv		0.61	6
rs5756504	TMPRSS6			22	37071230	intron variant	C/G;T	snv			5
rs1421312	TMPRSS6			22	37091770	intron variant	A/G	snv		0.45	4
rs4821112	UBE2L3			22	21610472	intron variant	G/A	snv		0.21	4
rs6000550	TMPRSS6			22	37067410	intron variant	C/G;T	snv		0.21	4
rs8141597	MPST			22	37028807	non coding transcript exon variant	T/C	snv		0.31	4
rs855788	TMPRSS6			22	37078039	intron variant	G/A	snv		0.51	4
rs131777	SYCE3			22	50552604	intron variant	C/T	snv		0.63	3
rs138665726	UBE2L3			22	21563570	intron variant	A/C	snv		0.17	3
rs2235320	KCTD17			22	37057216	intron variant	G/T	snv		9.5E-02	3
rs2235324	TMPRSS6			22	37089684	missense variant	T/C	snv	0.38	0.40	3
rs5749446	FBXO7			22	32484598	intron variant	T/A;C	snv			3
rs5994574				22	32470947	upstream gene variant	T/C	snv		0.46	3