DisGeNET - a database of gene-disease associations

List of associated variants

Vomiting, C0042963

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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs324420	FAAH	0.637	0.440	1	46405089	missense variant	C/A	snv	0.24	0.26	48
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs4818	COMT ; MIR4761	0.683	0.440	22	19963684	synonymous variant	C/G;T	snv	0.34		27
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs267607165	TUBB3	0.708	0.520	16	89935679	missense variant	G/A;C	snv			18
rs104893689	CASR	0.790	0.200	3	122261589	missense variant	G/A;C	snv			10
rs1799801	ERCC4	0.807	0.360	16	13948101	synonymous variant	T/C	snv	0.27	0.25	9
rs116928232	LIPA	0.827	0.120	10	89222511	missense variant	C/G;T	snv	1.2E-05; 9.1E-04		9
rs1062613	HTR3A	0.807	0.080	11	113975284	5 prime UTR variant	T/C	snv	0.79	0.71	7
rs886037774	LPL	0.882	0.120	8	19955993	missense variant	T/C	snv			7
rs886037775	LPL	0.882	0.120	8	19960948	missense variant	A/T	snv			7
rs104893851	MMAA	1.000	0.080	4	145639572	stop gained	C/T	snv	1.6E-04	1.7E-04	6
rs1057518886	HMBS			11	119090043	frameshift variant	C/-	delins			5
rs3758987	HTR3B	0.925	0.080	11	113904553	upstream gene variant	T/C	snv		0.32	4
rs3782025	HTR3B	0.882	0.080	11	113936885	intron variant	G/A	snv		0.55	4
rs1557607997	MMACHC	0.925	0.160	1	45508296	frameshift variant	-/C	delins			4
rs77931234	ACADM	0.925	0.120	1	75761161	missense variant	A/C;G	snv	3.3E-03		3
rs1553454436	MMADHC	1.000	0.080	2	149582256	frameshift variant	CT/-	delins			3
rs6766410	HTR3C	1.000	0.040	3	184056974	missense variant	C/A;T	snv	0.45; 4.0E-06		2
rs639174	DROSHA			5	31433540	intron variant	C/T	snv		0.36	1