DisGeNET - a database of gene-disease associations

List of associated variants

Mental Retardation, C0025362

Source: ALL

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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
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs4846049	C1orf167 ; MTHFR	0.776	0.360	1	11790308	3 prime UTR variant	T/A;G	snv			11
rs1476413	MTHFR	0.790	0.360	1	11792243	intron variant	C/G;T	snv	4.0E-06; 0.26	0.23	10
rs118203933	CA2	0.925	0.360	8	85473779	missense variant	C/T	snv	8.0E-06		6
rs122445108	ATRX	0.807	0.320	X	77717155	stop gained	G/A	snv			7
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs121965020	SLC26A1 ; IDUA	0.827	0.280	4	987858	stop gained	C/T	snv	4.7E-04	6.1E-04	6
rs5030849	PAH	0.851	0.280	12	102852875	missense variant	C/A;G;T	snv	2.2E-04		6
rs122460151	ARSL	0.851	0.280	X	2958423	missense variant	C/G	snv	7.1E-05	3.8E-05	5
rs587776690	ATR	0.882	0.280	3	142556439	synonymous variant	T/C	snv			4
rs1301785134	ATR	0.925	0.280	3	142556117	missense variant	C/T	snv	4.0E-06		3
rs587777696	SLC1A1 ; SPATA6L	0.925	0.280	9	4585316	missense variant	C/T	snv	4.0E-06		3
rs796053290	SLC9A6	0.925	0.280	X	135998095	splice region variant	TTTTA/-	delins			2
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs724159949	LOC105372797 ; DYRK1A	0.827	0.240	21	37486563	stop gained	C/T	snv			15
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1555661648	AQP4 ; AQP4-AS1	0.882	0.240	18	26862297	missense variant	C/G	snv			6
rs185645212	POLG	0.851	0.240	15	89323504	missense variant	C/A;T	snv	8.0E-06; 9.7E-04		6
rs45517305	TSC2	0.851	0.240	16	2081646	stop gained	C/A;T	snv			5