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
rs4813376	RIN2			20	19870811	intron variant	T/G	snv		0.86	2
rs4996815				13	105999312	intron variant	G/T	snv		0.61	2
rs6024905	BPI			20	38329435	intron variant	G/A	snv		0.47	2
rs6046396	RIN2			20	19871859	non coding transcript exon variant	G/A	snv		0.68	2
rs6444931	CLDN11			3	170445686	intron variant	G/A	snv		0.85	2
rs6627057				X	145059799	downstream gene variant	T/G	snv		0.16	2
rs7065696	PHF8			X	53947621	intron variant	C/G;T	snv			2
rs7248363	PGPEP1			19	18357076	intron variant	T/C	snv		0.74	2
rs7600871	NCKAP5			2	133257389	intron variant	C/T	snv		0.16	2
rs771065515	LMNA			1	156115240	missense variant	A/G	snv	2.5E-05	7.0E-06	2
rs7727102				5	4720472	intron variant	G/C	snv		0.32	2
rs802524	CNTNAP2			7	146254550	intron variant	T/C;G	snv			2
rs993804	RARB			3	25070680	intron variant	C/T	snv		0.75	2
rs144851946	LMNA			1	156138701	missense variant	G/A;T	snv	1.4E-04; 4.0E-06		1
rs2020933	SLC6A4			17	30234737	intron variant	A/T	snv		0.14	1
rs373584456	LMNA			1	156136335	missense variant	C/T	snv	2.4E-05	2.1E-05	1
rs374726751	LMNA			1	156136245	missense variant	C/T	snv	2.4E-05	3.5E-05	1
rs374926367	LMNA			1	156139089	missense variant	A/G	snv	1.2E-04	1.0E-04	1
rs59190448	OXTR ; CAV3			3	8761315	intron variant	G/A	snv		0.12	1
rs2535629	ITIH3	0.827	0.040	3	52799203	intron variant	G/A;C	snv			9
rs4650608		0.851	0.040	1	78772330	intergenic variant	T/C	snv		0.29	7
rs1018381	DTNBP1	0.882	0.040	6	15656839	intron variant	G/A	snv		0.16	6
rs1224426272	CIT	0.925	0.040	12	119869138	missense variant	C/T	snv			6
rs13438494	PCLO	1.000	0.040	7	82759398	intron variant	T/G	snv		0.61	6
rs736707	LOC101927870 ; RELN	0.851	0.040	7	103489956	intron variant	A/G	snv		0.30	6