DisGeNET - a database of gene-disease associations

List of associated variants

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, C4015357

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	Num. diseases
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv	42
rs587782991	PURA	0.882	0.080	5	140114991	inframe deletion	TCT/-	delins	6
rs587782993	PURA	0.882	0.080	5	140114737	stop gained	C/T	snv	6
rs587782994	PURA	0.882	0.080	5	140114470	missense variant	A/G	snv	6
rs587782999	PURA	0.882	0.080	5	140114446	missense variant	G/A;C	snv	6
rs587783001	PURA	0.882	0.080	5	140114777	missense variant	G/C	snv	6
rs587782992	PURA	0.882	0.080	5	140114483	frameshift variant	TC/-;TCTC	delins	5
rs587782998	PURA	0.882	0.080	5	140114651	missense variant	T/A	snv	5
rs886039899	PURA	0.925	0.160	5	140114891	missense variant	C/T	snv	3
rs793888527	PURA	1.000		5	140114744	missense variant	T/C	snv	2
rs1554129008	PURA	1.000		5	140114231	frameshift variant	C/-	del	1
rs1554129045	PURA	1.000		5	140114386	stop gained	C/T	snv	1
rs1554129069	PURA	1.000		5	140114543	frameshift variant	-/GC	delins	1
rs1554129091	PURA	1.000		5	140114668	stop gained	C/T	snv	1
rs1554129096	PURA	1.000		5	140114677	missense variant	C/A;T	snv	1
rs1554129100	PURA	1.000		5	140114692	missense variant	C/G	snv	1
rs1554129114	PURA	1.000		5	140114905	frameshift variant	-/T	delins	1
rs1554129118	PURA	1.000		5	140114915	missense variant	G/C	snv	1
rs1561792945	PURA	1.000		5	140114191	stop gained	C/T	snv	1
rs1561793115	PURA	1.000		5	140114356	stop gained	C/T	snv	1
rs1561793211	PURA	1.000		5	140114561	frameshift variant	-/C	delins	1
rs1561793219	PURA	1.000		5	140114583	frameshift variant	-/AGGACGAGCCGCGC	delins	1
rs1561793268	PURA	1.000		5	140114672	frameshift variant	-/GCCG	delins	1
rs1561793336	PURA	1.000		5	140114786	missense variant	T/C	snv	1
rs1561793344	PURA	1.000		5	140114800	frameshift variant	GACGACT/-	del	1