DisGeNET - a database of gene-disease associations

List of associated variants

Constipation, C0009806

Source: ALL

Results per page

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	Num. diseases
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del		33
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del		24
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del		9
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del		8
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06	73
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins		45
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins		43
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins		34
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins		27
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins		26
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins		21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins		21
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins		18
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins		15
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins		14
rs765243124	COL17A1	0.827	0.160	10	104033953	frameshift variant	CTCT/-	delins	4.0E-06	14
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins		13
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins		10
rs386834055	VPS13B	0.925	0.320	8	99853469	frameshift variant	-/A	delins		9
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	frameshift variant	A/-	delins		7
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv		73
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv		67
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv		63
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv		57
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv		53