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	AF GENOME	Num. diseases
rs148292941	B4GALT3 ; PPOX			1	161171095	stop gained	T/C;G	snv	8.0E-06	6.3E-05	4
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs121913371	BRAF	1.000	0.040	7	140781678	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		3
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs765243124	COL17A1	0.827	0.160	10	104033953	frameshift variant	CTCT/-	delins	4.0E-06		14
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs1672753	CRBN	0.882	0.240	3	3179746	upstream gene variant	C/T	snv		0.71	4
rs6768972	CRBN	1.000	0.160	3	3180101	upstream gene variant	A/C;G	snv			2
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs1554944271	DEAF1	0.851	0.240	11	686925	missense variant	C/G	snv			14
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del			8
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs324420	FAAH	0.637	0.440	1	46405089	missense variant	C/A	snv	0.24	0.26	48
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12