DisGeNET - a database of gene-disease associations

List of associated variants

Constipation, C0009806

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
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
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs397518483	RARB	0.851	0.120	3	25596428	missense variant	C/A;T	snv			9
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs4263839	TNFSF15	0.807	0.160	9	114804160	intron variant	A/G	snv		0.75	7
rs148292941	B4GALT3 ; PPOX			1	161171095	stop gained	T/C;G	snv	8.0E-06	6.3E-05	4
rs1672753	CRBN	0.882	0.240	3	3179746	upstream gene variant	C/T	snv		0.71	4
rs121913371	BRAF	1.000	0.040	7	140781678	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		3
rs6090453	NTSR1	1.000	0.040	20	62724010	intron variant	C/A;G;T	snv			2
rs6768972	CRBN	1.000	0.160	3	3180101	upstream gene variant	A/C;G	snv			2
rs1800832	NTS			12	85874401	5 prime UTR variant	A/G	snv	8.2E-02	7.6E-02	1
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