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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21
rs2854744	IGFBP3	0.695	0.520	7	45921476	intron variant	G/T	snv		0.48	20
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs11003125	MBL2	0.790	0.480	10	52772254	upstream gene variant	G/C	snv		0.31	7
rs104894972	SRY	0.807	0.240	Y	2787320	missense variant	C/T	snv			6
rs121918655	NR5A1	0.851	0.200	9	124493143	missense variant	C/T	snv			5
rs1217301314	SSRP1	0.827	0.240	11	57333494	missense variant	T/C	snv	1.2E-05	2.1E-05	5
rs2305767	MYO9B	0.882	0.280	19	17183487	intron variant	C/T	snv		0.70	4
rs201340156	NR5A1	0.882	0.200	9	124500571	missense variant	G/A;C	snv	6.7E-05		3
rs3782415	SOCS2	0.925	0.280	12	93573979	3 prime UTR variant	T/C	snv		0.20	3
rs104894966	SRY	0.882	0.200	Y	2787267	missense variant	C/T	snv			3
rs104894971	SRY	0.882	0.200	Y	2787551	missense variant	C/T	snv	4.4E-05		3
rs1389990700	ARSA	1.000	0.200	22	50627389	missense variant	C/G	snv		7.0E-06	1
rs7055196	EFHC2	1.000	0.200	X	44245292	intron variant	A/G	snv		0.23	1