DisGeNET - a database of gene-disease associations

List of associated variants

Constipation, C0009806

Source: CURATED ×

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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
rs148292941	B4GALT3 ; PPOX			1	161171095	stop gained	T/C;G	snv	8.0E-06	6.3E-05	4
rs121913371	BRAF	1.000	0.040	7	140781678	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		1
rs1564421528	WAC	0.882	0.080	10	28614666	stop gained	C/T	snv			16
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1334099693	SOX4	0.882	0.080	6	21594732	missense variant	C/A;T	snv	4.6E-06		11
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del			8
rs397518483	RARB	0.851	0.120	3	25596428	missense variant	C/A;T	snv			4
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
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
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs765243124	COL17A1	0.827	0.160	10	104033953	frameshift variant	CTCT/-	delins	4.0E-06		14
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs4263839	TNFSF15	0.807	0.160	9	114804160	intron variant	A/G	snv		0.75	3
rs1555429629	RAD51	0.763	0.200	15	40729632	missense variant	G/A	snv			23
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1554944271	DEAF1	0.851	0.240	11	686925	missense variant	C/G	snv			14
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10